7:72846244-74187855 DUP
CNV summary
Our verdict is Uncertain significance. Variant got ACMG score 0.
CNV gain of the region 7:72,846,244-74,187,855 (1.3 mb), is localized in (7)(q11.23). The region contains protein-coding and important regions. There is complete overlap with established TS region(s): dbVar:nssv15119921. However, all these regions lay inside a transcript, the mechanism of pathogenicity is that they probably break it. There are partially covered regions: DUP dbVar:nssv15154518 7:73,287,016-74,728,902 partially (0.6247643711083956) covered by ROI (7:73,287,016-74,728,902) is considered Pathogenic (and 53 more), but no TS genes affected. There are 26 protein coding genes across 21 gene families: LIMK1, ELN, BAZ1B, EIF4H, NSUN5, MLXIPL, DNAJC30, BCL7B, TRIM50, POM121 (and 16 more) in the affected region.
Genes
ABHD11 BAZ1B BCL7B BUD23 CLDN3 CLDN4 DNAJC30 EIF4H ELN FKBP6 FZD9 LIMK1 METTL27 MLXIPL NSUN5 POM121 SPDYE10 SPDYE11 SPDYE8 SPDYE9 STX1A TBL2 TMEM270 TRIM50 TRIM74 VPS37DClinGen
TODOACMG Results
Pathogenicity Level: Uncertain_significance
Score: 0
Criteria:
- GAIN_1A : 0 pointsRule : Contains protein-coding or other known functionally important elements.Details:The region contains protein-coding genes, for example: POM121. The region contains important regions, for example: dbVar:nssv17955650.
- GAIN_2A Beware, not metRule (not met) : Complete overlap; the known pathogenic gain SV is fully contained within the observed copy-number gain.Details:There is complete overlap with established TS region(s): dbVar:nssv15119921. However, all these regions lay inside a transcript, the mechanism of pathogenicity is that they probably break it.
- GAIN_2B Beware, not metRule (not met) : Partial overlap of a known pathogenic gain SV: The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.Details:[DUP dbVar:nssv15154518 7:73,287,016-74,728,902 partially (0.6247643711083956) covered by ROI (7:73,287,016-74,728,902) is considered Pathogenic , DUP dbVar:nssv15150733 7:73,286,522-74,727,918 partially (0.6253194819466684) covered by ROI (7:73,286,522-74,727,918) is considered Pathogenic , DUP dbVar:nssv15168014 7:44,935-159,333,620 which contains ROI (7:44,935-159,333,620) is considered Pathogenic , DUP dbVar:nssv15146449 7:73,286,412-74,725,240 partially (0.6265119944843998) covered by ROI (7:73,286,412-74,725,240) is considered Pathogenic , DUP dbVar:nssv15168013 7:10,704-159,329,842 which contains ROI (7:10,704-159,329,842) is considered Pathogenic , DUP dbVar:nssv15126184 7:73,271,719-74,775,327 partially (0.6092917834967625) covered by ROI (7:73,271,719-74,775,327) is considered Pathogenic , DUP dbVar:nssv15147714 7:72,503,227-74,719,013 which contains ROI (7:72,503,227-74,719,013) is considered Pathogenic , DUP dbVar:nssv15151509 7:73,166,840-74,761,099 partially (0.640432326240592) covered by ROI (7:73,166,840-74,761,099) is considered Pathogenic , DUP dbVar:nssv15149513 7:73,263,132-74,728,802 partially (0.6309216945151365) covered by ROI (7:73,263,132-74,728,802) is considered Pathogenic , DUP dbVar:nssv15146778 7:72,179,092-79,164,071 which contains ROI (7:72,179,092-79,164,071) is considered Pathogenic , DUP dbVar:nssv15146395 7:73,280,574-74,839,100 partially (0.5821404326908887) covered by ROI (7:73,280,574-74,839,100) is considered Pathogenic , DUP dbVar:nssv15147013 7:72,768,821-74,869,255 which contains ROI (7:72,768,821-74,869,255) is considered Pathogenic , DUP dbVar:nssv15152109 7:73,166,840-74,783,503 partially (0.6315571025006449) covered by ROI (7:73,166,840-74,783,503) is considered Pathogenic , DUP dbVar:nssv15147334 7:72,938,064-74,779,028 partially (0.678878565794877) covered by ROI (7:72,938,064-74,779,028) is considered Pathogenic , DUP dbVar:nssv15146175;nssv15148276 7:73,352,304-74,719,013 partially (0.61135984324388) covered by ROI (7:73,352,304-74,719,013) is considered Pathogenic , DUP dbVar:nssv15151508 7:73,286,522-74,655,531 partially (0.6583835460541165) covered by ROI (7:73,286,522-74,655,531) is considered Pathogenic , DUP dbVar:nssv15167739 7:73,329,980-74,730,726 partially (0.6124415133079087) covered by ROI (7:73,329,980-74,730,726) is considered Pathogenic , DUP dbVar:nssv15148970 7:73,352,304-75,065,728 partially (0.4876498753373362) covered by ROI (7:73,352,304-75,065,728) is considered Pathogenic , DUP dbVar:nssv15160831 7:73,323,103-74,726,596 partially (0.6161427239038598) covered by ROI (7:73,323,103-74,726,596) is considered Pathogenic , DUP dbVar:nssv16254014 7:73,245,641-74,750,557 partially (0.6260907585539658) covered by ROI (7:73,245,641-74,750,557) is considered Pathogenic , DUP dbVar:nssv15146396 7:73,312,575-74,723,034 partially (0.6205639440777789) covered by ROI (7:73,312,575-74,723,034) is considered Pathogenic , DUP dbVar:nssv15147458 7:73,280,574-74,727,989 partially (0.6268285184276797) covered by ROI (7:73,280,574-74,727,989) is considered Pathogenic , DUP dbVar:nssv15154519 7:73,166,840-74,732,825 partially (0.6519953894832965) covered by ROI (7:73,166,840-74,732,825) is considered Pathogenic , DUP dbVar:nssv15146741 7:73,040,501-75,255,046 partially (0.5180992032223324) covered by ROI (7:73,040,501-75,255,046) is considered Pathogenic , DUP dbVar:nssv15146933 7:73,304,281-74,726,374 partially (0.6213194214443077) covered by ROI (7:73,304,281-74,726,374) is considered Pathogenic , DUP dbVar:nssv15150793 7:73,245,641-74,728,902 partially (0.6352314258920042) covered by ROI (7:73,245,641-74,728,902) is considered Pathogenic , DUP dbVar:nssv15777247 7:10,365-159,327,017 which contains ROI (7:10,365-159,327,017) is considered Pathogenic , DUP dbVar:nssv15174166 7:73,192,410-74,738,864 partially (0.6436951891229872) covered by ROI (7:73,192,410-74,738,864) is considered Pathogenic , DUP dbVar:nssv15148173 7:73,175,475-74,740,268 partially (0.6469737530778832) covered by ROI (7:73,175,475-74,740,268) is considered Pathogenic , DUP dbVar:nssv15149887 7:73,175,475-74,751,069 partially (0.6425386235286501) covered by ROI (7:73,175,475-74,751,069) is considered Pathogenic , DUP dbVar:nssv15148877 7:73,280,574-74,779,057 partially (0.6054663282800005) covered by ROI (7:73,280,574-74,779,057) is considered Pathogenic , DUP dbVar:nssv15147399 7:73,192,369-74,779,057 partially (0.6273987072442724) covered by ROI (7:73,192,369-74,779,057) is considered Pathogenic , DUP dbVar:nssv15148904 7:73,192,369-74,883,978 partially (0.5884846912022814) covered by ROI (7:73,192,369-74,883,978) is considered Pathogenic , DUP dbVar:nssv15159763 7:73,312,644-74,726,596 partially (0.618982115375911) covered by ROI (7:73,312,644-74,726,596) is considered Pathogenic , DUP dbVar:nssv15147012 7:72,649,515-75,361,855 which contains ROI (7:72,649,515-75,361,855) is considered Pathogenic , DUP dbVar:nssv15146013 7:62,977,085-75,415,352 which contains ROI (7:62,977,085-75,415,352) is considered Pathogenic , DUP dbVar:nssv15153678 7:73,166,840-75,274,941 partially (0.4843292612640476) covered by ROI (7:73,166,840-75,274,941) is considered Pathogenic , DUP dbVar:nssv16215249 7:73,308,984-74,727,502 partially (0.6195698609393747) covered by ROI (7:73,308,984-74,727,502) is considered Pathogenic , DUP dbVar:nssv15161666;nssv15161679 7:43,361-159,327,017 which contains ROI (7:43,361-159,327,017) is considered Pathogenic , DUP dbVar:nssv15146773 7:73,280,574-74,728,722 partially (0.6265112405638098) covered by ROI (7:73,280,574-74,728,722) is considered Pathogenic , DUP dbVar:nssv17976854 7:73,272,914-74,740,732 partially (0.6233340918288235) covered by ROI (7:73,272,914-74,740,732) is considered Pathogenic , DUP dbVar:nssv18830985 7:73,250,429-74,748,249 partially (0.6258602502303348) covered by ROI (7:73,250,429-74,748,249) is considered Pathogenic , DUP dbVar:nssv17976654 7:73,352,304-74,628,471 partially (0.6547348426969197) covered by ROI (7:73,352,304-74,628,471) is considered Pathogenic , DUP dbVar:nssv15755212 7:72,893,987-74,365,935 partially (0.8790174652908934) covered by ROI (7:72,893,987-74,365,935) is considered Pathogenic , DUP dbVar:nssv17955880 7:73,303,348-74,718,991 partially (0.6248093622474028) covered by ROI (7:73,303,348-74,718,991) is considered Pathogenic , DUP dbVar:nssv15146450 7:73,352,104-74,719,154 partially (0.6113536447094108) covered by ROI (7:73,352,104-74,719,154) is considered Pathogenic , DUP dbVar:nssv15147327 7:73,352,303-74,719,008 partially (0.6113623642263692) covered by ROI (7:73,352,303-74,719,008) is considered Pathogenic , DUP dbVar:nssv15147556 7:73,286,125-74,732,517 partially (0.6234340344802792) covered by ROI (7:73,286,125-74,732,517) is considered Pathogenic , DUP dbVar:nssv15147014;nssv15147017 7:73,280,574-74,725,240 partially (0.6280212865811198) covered by ROI (7:73,280,574-74,725,240) is considered Pathogenic , DUP dbVar:nssv15128409 7:73,235,973-74,774,225 partially (0.618807581592613) covered by ROI (7:73,235,973-74,774,225) is considered Pathogenic , DUP dbVar:nssv18830970 7:73,304,280-74,727,918 partially (0.6206458383381168) covered by ROI (7:73,304,280-74,727,918) is considered Pathogenic , DUP dbVar:nssv15150228 7:73,278,089-74,740,162 partially (0.6222438961666072) covered by ROI (7:73,278,089-74,740,162) is considered Pathogenic , DUP TS3:ISCA-37392 7:73,330,452-74,728,172 partially (0.613429728414847) covered by ROI (7:73,330,452-74,728,172) is considered Pathogenic , DUP dbVar:nssv15151227 7:73,263,260-74,728,902 partially (0.6308464140629158) covered by ROI (7:73,263,260-74,728,902) is considered Pathogenic ]
- GAIN_2D Beware, not metRule (not met) : Smaller than established benign copy-number gain, breakpoint(s) does not interrupt protein-coding genes.Details:Breakpoint probably does interrupt genes POM121, TRIM74, SPDYE8, SPDYE11, SPDYE9, SPDYE10, NSUN5, TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, BUD23, STX1A, ABHD11, CLDN3, CLDN4, METTL27, TMEM270, ELN, LIMK1, EIF4H
- GAIN_2E : 0 pointsRule : Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.Details:Contained in established TS region DDD:24479, dbVar, dbVar, DDD:24478, 1000g, dbVar, probably breaking POM121, TRIM74, SPDYE8, SPDYE11, SPDYE9, SPDYE10, NSUN5, TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, BUD23, STX1A, ABHD11, CLDN3, CLDN4, METTL27, TMEM270, ELN, LIMK1, EIF4H
- GAIN_3A : 0 pointsRule : 0–34 genesDetails:There are 26 protein coding genes across 21 gene families: LIMK1, ELN, BAZ1B, EIF4H, NSUN5, MLXIPL, DNAJC30, BCL7B, TRIM50, POM121, STX1A, TRIM74, VPS37D, CLDN3, FZD9, ABHD11, TBL2, BUD23, FKBP6, CLDN4, METTL27, TMEM270, SPDYE10, SPDYE9, SPDYE11, SPDYE8
Overlapped Genes
List of MANE transcripts overlapped by the CNV.| Gene | Overlap (% CDS) | Scores | ClinGen Dosage | Dosage (p) | Top Disease Association |
|---|---|---|---|---|---|
ABHD11 HGNC: 16407 | Internal 100% CDS covered | LoF pLI: 1.8944e-8 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.10 Triplo: 0.36 | N/A |
BAZ1B HGNC: 961 | Internal 100% CDS covered | LoF pLI: 1 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.99 Triplo: 1.00 | autism spectrum disorder Limited AD |
BCL7B HGNC: 1005 | Internal 100% CDS covered | LoF pLI: 0.023274 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.14 Triplo: 0.67 | N/A |
BUD23 HGNC: 16405 | Internal 100% CDS covered | LoF pLI: 1.9186e-8 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.20 Triplo: 0.34 | N/A |
CLDN3 HGNC: 2045 | Partial_last_exon 100% CDS covered | LoF pLI: 0.45418 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.54 Triplo: 0.48 | N/A |
CLDN4 HGNC: 2046 | Partial_last_exon 100% CDS covered | LoF pLI: 0.00012783 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.42 Triplo: 0.24 | N/A |
DNAJC30 HGNC: 16410 | Partial_last_exon 100% CDS covered | LoF pLI: 5.877e-7 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.12 Triplo: 0.67 | Leber hereditary optic neuropathy, autosomal recessive (+2) Strong AR |
EIF4H HGNC: 12741 | Five_utr_with_cds 33% CDS covered | LoF pLI: 0.97569 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.66 Triplo: 0.95 | N/A |
ELN HGNC: 3327 | Internal 100% CDS covered | LoF pLI: 7.6169e-10 DECIPHER: N/A | HI: SUFFICIENT_EVIDENCE TS: NO_EVIDENCE_AVAILABLE | Haplo: 0.44 Triplo: 0.63 | supravalvular aortic stenosis (+9) Strong AD |
FKBP6 HGNC: 3722 | Internal 100% CDS covered | LoF pLI: 0.000004027 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.14 Triplo: 0.31 | spermatogenic failure 77 Moderate AR |
FZD9 HGNC: 4047 | Partial_last_exon 100% CDS covered | LoF pLI: 5.927e-11 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.21 Triplo: 0.37 | N/A |
LIMK1 HGNC: 6613 | Internal 100% CDS covered | LoF pLI: 1 DECIPHER: N/A | HI: NO_EVIDENCE_AVAILABLE TS: NO_EVIDENCE_AVAILABLE | Haplo: 0.65 Triplo: 0.95 | N/A |
METTL27 HGNC: 19068 | Internal 100% CDS covered | LoF pLI: 1.7958e-12 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.07 Triplo: 0.19 | N/A |
MLXIPL HGNC: 12744 | Internal 100% CDS covered | LoF pLI: 1.2246e-11 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.61 Triplo: 0.69 | N/A |
NSUN5 HGNC: 16385 | Internal 100% CDS covered | LoF pLI: 1.1452e-10 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.15 Triplo: 0.70 | N/A |
POM121 HGNC: 19702 | Internal 100% CDS covered | LoF pLI: 0.0023151 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.21 Triplo: 0.58 | N/A |
SPDYE10 HGNC: 51506 | Internal 100% CDS covered | LoF pLI: 0.75423 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: N/A Triplo: N/A | N/A |
SPDYE11 HGNC: 51507 | Internal 100% CDS covered | LoF pLI: N/A DECIPHER: N/A | HI:N/A TS:N/A | Haplo: N/A Triplo: N/A | N/A |
SPDYE8 HGNC: 33771 | Internal 100% CDS covered | LoF pLI: N/A DECIPHER: N/A | HI:N/A TS:N/A | Haplo: N/A Triplo: N/A | N/A |
SPDYE9 HGNC: 45034 | Internal 100% CDS covered | LoF pLI: N/A DECIPHER: N/A | HI:N/A TS:N/A | Haplo: N/A Triplo: N/A | N/A |
STX1A HGNC: 11433 | Internal 100% CDS covered | LoF pLI: 0.99999 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.32 Triplo: 0.56 | complex neurodevelopmental disorder (+4) Moderate AD |
TBL2 HGNC: 11586 | Internal 100% CDS covered | LoF pLI: 1.3839e-9 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.11 Triplo: 0.34 | N/A |
TMEM270 HGNC: 23018 | Internal 100% CDS covered | LoF pLI: 4.1762e-11 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.04 Triplo: 0.05 | N/A |
TRIM50 HGNC: 19017 | Internal 100% CDS covered | LoF pLI: 4.9613e-10 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.39 Triplo: 0.63 | N/A |
TRIM74 HGNC: 17453 | Internal 100% CDS covered | LoF pLI: 0.22661 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.19 Triplo: 0.54 | N/A |
VPS37D HGNC: 18287 | Internal 100% CDS covered | LoF pLI: 0.26283 DECIPHER: N/A | HI:N/A TS:N/A | Haplo: 0.32 Triplo: 0.54 | N/A |
gnomAD Structural Variants
No gnomAD SVs Found
This CNV does not overlap any gnomad svs.
ClinVar Structural Variants
Showing 81 of 89
| Variation ID | Size | Overlap | Type | Clinical Significance | Position |
|---|---|---|---|---|---|
| Variation ID 58218 | Size 2.1 Mb | Overlap Internal 63.9% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:72,768,821-74,869,255 |
| Variation ID 147066 | Size 1.8 Mb | Overlap Partial 67.9% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:72,938,064-74,779,028 |
| Variation ID 57313 | Size 1.9 Mb | Overlap Partial 64.9% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:72,930,548-74,869,255 |
| Variation ID 59305 | Size 1.6 Mb | Overlap Partial 66.9% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,096,542-74,727,989 |
| Variation ID 58217 | Size 2.7 Mb | Overlap Internal 49.5% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:72,649,515-75,361,855 |
| Variation ID 153242 | Size 1.6 Mb | Overlap Partial 64.7% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,175,475-74,740,268 |
| Variation ID 149043 | Size 1.6 Mb | Overlap Partial 62.7% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,192,369-74,779,057 |
| Variation ID 149044 | Size 1.6 Mb | Overlap Partial 62.7% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,192,369-74,779,057 |
| Variation ID 2499666 | Size 1.5 Mb | Overlap Partial 64% | Type DEL | Clinical Significance Pathogenic Williams syndrome | Position 7:73,229,597-74,727,852 |
| Variation ID 2505469 | Size 1.6 Mb | Overlap Partial 62.4% | Type DEL | Clinical Significance Pathogenic Williams syndrome | Position 7:73,214,501-74,773,500 |
| Variation ID 3236844 | Size 1.5 Mb | Overlap Partial 63.5% | Type DUP | Clinical Significance Pathogenic 7q11.23 microduplication syndrome | Position 7:73,247,356-74,727,974 |
| Variation ID 146414 | Size 2.2 Mb | Overlap Partial 51.8% | Type DUP | Clinical Significance Uncertain significance See cases | Position 7:73,040,501-75,255,046 |
| Variation ID 148663 | Size 2.2 Mb | Overlap Partial 51.8% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,040,501-75,255,046 |
| Variation ID 150322 | Size 1.7 Mb | Overlap Partial 59.4% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,192,369-74,869,255 |
| Variation ID 152064 | Size 1.7 Mb | Overlap Partial 58.8% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,192,369-74,883,978 |
| Variation ID 149310 | Size 1.5 Mb | Overlap Partial 62.9% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,271,690-74,727,989 |
| Variation ID 59319 | Size 1.4 Mb | Overlap Partial 63.4% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,707,848 |
| Variation ID 59315 | Size 1.4 Mb | Overlap Partial 62.9% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,723,034 |
| Variation ID 58219 | Size 1.4 Mb | Overlap Partial 62.8% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,725,240 |
| Variation ID 58237 | Size 1.4 Mb | Overlap Partial 62.8% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,725,240 |
| Variation ID 153973 | Size 1.4 Mb | Overlap Partial 62.7% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,727,918 |
| Variation ID 149309 | Size 1.4 Mb | Overlap Partial 62.7% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,727,989 |
| Variation ID 155323 | Size 1.4 Mb | Overlap Partial 62.7% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,728,722 |
| Variation ID 59316 | Size 1.4 Mb | Overlap Partial 62.7% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,723,034 |
| Variation ID 59317 | Size 1.4 Mb | Overlap Partial 62.7% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,725,240 |
| Variation ID 59318 | Size 1.4 Mb | Overlap Partial 62.7% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,725,240 |
| Variation ID 153978 | Size 1.4 Mb | Overlap Partial 62.6% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,522-74,727,156 |
| Variation ID 149308 | Size 1.4 Mb | Overlap Partial 62.5% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,727,989 |
| Variation ID 154080 | Size 1.4 Mb | Overlap Partial 62.5% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,508-74,727,852 |
| Variation ID 154259 | Size 1.4 Mb | Overlap Partial 62.3% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,286,125-74,732,517 |
| Variation ID 154824 | Size 1.5 Mb | Overlap Partial 61.2% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,758,583 |
| Variation ID 144925 | Size 1.4 Mb | Overlap Partial 62.5% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,304,255-74,718,954 |
| Variation ID 150236 | Size 1.5 Mb | Overlap Partial 60.5% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,779,057 |
| Variation ID 2574138 | Size 1.4 Mb | Overlap Partial 62.1% | Type DEL | Clinical Significance Pathogenic Williams syndrome | Position 7:73,304,277-74,727,414 |
| Variation ID 155565 | Size 1.4 Mb | Overlap Partial 62.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,304,280-74,727,852 |
| Variation ID 3252027 | Size 1.4 Mb | Overlap Partial 61.8% | Type DEL | Clinical Significance Likely pathogenic Williams syndrome | Position 7:73,303,398-74,735,532 |
| Variation ID 154347 | Size 1.5 Mb | Overlap Partial 60.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,789,341 |
| Variation ID 151986 | Size 1.5 Mb | Overlap Partial 60.4% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,779,057 |
| Variation ID 58239 | Size 1.4 Mb | Overlap Partial 62.1% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,312,575-74,723,034 |
| Variation ID 147629 | Size 1.4 Mb | Overlap Partial 62% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,312,582-74,725,057 |
| Variation ID 545349 | Size 1.4 Mb | Overlap Partial 61.9% | Type DUP | Clinical Significance Pathogenic Schizophrenia | Position 7:73,312,644-74,726,596 |
| Variation ID 545350 | Size 1.4 Mb | Overlap Partial 61.6% | Type DUP | Clinical Significance Pathogenic Autism | Position 7:73,323,103-74,726,596 |
| Variation ID 58238 | Size 1.6 Mb | Overlap Partial 58.2% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,839,100 |
| Variation ID 4526739 | Size 1.4 Mb | Overlap Partial 61.3% | Type DEL | Clinical Significance Pathogenic not provided | Position 7:73,330,453-74,728,172 |
| Variation ID 4526796 | Size 1.5 Mb | Overlap Partial 59.2% | Type DEL | Clinical Significance Pathogenic not provided | Position 7:73,302,466-74,798,315 |
| Variation ID 151015 | Size 1.6 Mb | Overlap Partial 57% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,286,412-74,869,255 |
| Variation ID 59320 | Size 1.4 Mb | Overlap Partial 61.1% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,352,104-74,719,154 |
| Variation ID 59321 | Size 1.4 Mb | Overlap Partial 61.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,104-74,719,154 |
| Variation ID 146803 | Size 1.4 Mb | Overlap Partial 61.1% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,352,303-74,719,008 |
| Variation ID 146807 | Size 1.4 Mb | Overlap Partial 61.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,303-74,719,008 |
| Variation ID 32380 | Size 1.4 Mb | Overlap Partial 61.1% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,719,013 |
| Variation ID 32643 | Size 1.4 Mb | Overlap Partial 61.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,719,013 |
| Variation ID 160822 | Size 1.4 Mb | Overlap Partial 61.1% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,719,013 |
| Variation ID 160898 | Size 1.4 Mb | Overlap Partial 61.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,719,013 |
| Variation ID 147170 | Size 1.6 Mb | Overlap Partial 55.2% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,280,574-74,924,007 |
| Variation ID 146774 | Size 1.4 Mb | Overlap Partial 58.6% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,303-74,779,051 |
| Variation ID 57316 | Size 1.5 Mb | Overlap Partial 55.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,869,255 |
| Variation ID 146838 | Size 1.6 Mb | Overlap Partial 53.2% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,303-74,924,023 |
| Variation ID 33969 | Size 1.6 Mb | Overlap Partial 53.2% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,924,037 |
| Variation ID 160823 | Size 1.6 Mb | Overlap Partial 53.2% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,304-74,924,037 |
| Variation ID 154623 | Size 1.7 Mb | Overlap Partial 48.8% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:73,352,304-75,065,728 |
| Variation ID 149956 | Size 377.6 kb | Overlap Full 100% | Type DUP | Clinical Significance Uncertain significance See cases | Position 7:73,755,813-74,133,404 |
| Variation ID 154350 | Size 375.5 kb | Overlap Full 100% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,755,831-74,131,326 |
| Variation ID 60243 | Size 328.3 kb | Overlap Full 100% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,614,671-73,942,928 |
| Variation ID 146545 | Size 2.2 Mb | Overlap Partial 35.7% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:71,461,127-73,614,730 |
| Variation ID 148662 | Size 269.8 kb | Overlap Full 100% | Type DEL | Clinical Significance Uncertain significance See cases | Position 7:73,286,412-73,556,222 |
| Variation ID 155387 | Size 7.0 Mb | Overlap Internal 19.2% | Type DUP | Clinical Significance Likely pathogenic See cases | Position 7:72,179,092-79,164,071 |
| Variation ID 60237 | Size 8.4 Mb | Overlap Internal 15.9% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:69,382,353-77,823,832 |
| Variation ID 144156 | Size 3.4 Mb | Overlap Partial 24.8% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,352,304-76,722,261 |
| Variation ID 155277 | Size 2.0 Mb | Overlap Partial 30.4% | Type DEL | Clinical Significance Uncertain significance See cases | Position 7:71,478,043-73,444,574 |
| Variation ID 57096 | Size 10.5 Mb | Overlap Internal 12.8% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:71,225,344-81,735,657 |
| Variation ID 58552 | Size 5.0 Mb | Overlap Partial 17.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:68,668,307-73,710,276 |
| Variation ID 154104 | Size 12.4 Mb | Overlap Internal 10.8% | Type DUP | Clinical Significance Pathogenic See cases | Position 7:62,977,085-75,415,352 |
| Variation ID 154461 | Size 12.7 Mb | Overlap Internal 10.6% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:62,736,364-75,432,710 |
| Variation ID 147810 | Size 876.4 kb | Overlap Partial 16% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:74,047,652-74,924,037 |
| Variation ID 152805 | Size 1.0 Mb | Overlap Partial 13.2% | Type DUP | Clinical Significance Likely benign See cases | Position 7:74,053,426-75,069,953 |
| Variation ID 60244 | Size 10.1 Mb | Overlap Partial 3.1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:73,873,420-83,988,860 |
| Variation ID 150043 | Size 1.7 Mb | Overlap Partial 2.8% | Type DEL | Clinical Significance Uncertain significance See cases | Position 7:71,148,562-72,895,414 |
| Variation ID 59618 | Size 429.4 kb | Overlap Partial 5.6% | Type DUP | Clinical Significance Uncertain significance See cases | Position 7:74,163,876-74,593,260 |
| Variation ID 57162 | Size 541.3 kb | Overlap Partial 1.9% | Type DEL | Clinical Significance Uncertain significance See cases | Position 7:74,177,663-74,718,954 |
| Variation ID 60247 | Size 1.2 Mb | Overlap Partial 1% | Type DEL | Clinical Significance Pathogenic See cases | Position 7:74,176,025-75,361,855 |
ClinGen Recurrent CNVs
Showing 3 of 5
| Region Name | Size | Overlap | Type | Position |
|---|---|---|---|---|
| Region Name 7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN) | Size 1.4 Mb | Overlap Partial 61.3% | TypeN/A | Position 7:73,330,452-74,728,172 |
| Region Name LCR-A_cen | Size 160.2 kb | Overlap Full 100% | TypeN/A | Position 7:72,993,774-73,153,979 |
| Region Name LCR-C_cen | Size 134.5 kb | Overlap Full 100% | TypeN/A | Position 7:72,859,312-72,993,773 |
ClinGen Dosage Sensitivity Regions
Showing 1 of 1
| Region ID | Size | Overlap | Type | Dosage Sensitivity | Position |
|---|---|---|---|---|---|
| Region ID 7:73330452-74728172 | Size 1.4 Mb | Overlap Partial 61.3% | TypeN/A | Dosage Sensitivity HI: SUFFICIENT_EVIDENCE TS: SUFFICIENT_EVIDENCE | Position 7:73,330,452-74,728,172 |
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