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Items: 1 to 20 of 102

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112744copy number variation1nstd102humanLikely pathogenic GRCh37 chr11: 71,155,018-71,156,024 , GRCh38.p12 chr11: 71,443,972-71,444,978 DHCR7
    nsv5915164copy number variation1nstd209human GRCh38 chr11: 71,439,704-71,447,532 , GRCh37.p13 chr11: 71,150,750-71,158,578 DHCR7
    nsv5864889copy number variation1nstd209human GRCh38 chr11: 71,439,684-71,447,526 , GRCh37.p13 chr11: 71,150,730-71,158,572 DHCR7
    nsv5672638copy number variation1nstd102humanLikely pathogenic GRCh37 chr11: 71,146,411-71,152,496 , GRCh38.p12 chr11: 71,435,365-71,441,450 DHCR7
    nsv5672637copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,146,411-71,146,895 , GRCh38.p12 chr11: 71,435,365-71,435,849 DHCR7
    nsv5380796copy number variation1nstd102humanPathogenic GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397 FAUP4, MMP7, 2031 more genes
    nsv4980090copy number variation1nstd200human GRCh38 chr11: 71,443,489-71,446,952 , GRCh37.p13 chr11: 71,154,535-71,157,998 DHCR7
    nsv4751865inversion1nstd199human GRCh37 chr11: 1,620,303-71,272,233 , GRCh38.p12 chr11: 1,599,073-71,561,187 , ACP2, 1686 more genes
    nsv4715246copy number variation1nstd195human GRCh37 chr11: 70,879,801-71,222,251 , GRCh38.p12 chr11: 71,168,755-71,511,205 DHCR7, SHANK2, 4 more genes
    nsv4683128copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,152,263-71,152,496 , GRCh38.p12 chr11: 71,441,217-71,441,450 DHCR7
    nsv4683017copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,155,029-71,156,008 , GRCh38.p12 chr11: 71,443,983-71,444,962 DHCR7
    nsv4681998copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,152,263-71,156,008 , GRCh38.p12 chr11: 71,441,217-71,444,962 DHCR7
    nsv4681893copy number variation1nstd102humanUncertain significance GRCh37 chr11: 71,146,401-71,907,241 , GRCh38.p12 chr11: 71,435,355-72,196,197 OR7E128P, ZNF705EP, 39 more genes
    nsv4456368copy number variation1nstd102humanUncertain significance GRCh37 chr11: 71,158,840-71,210,308 , GRCh38.p12 chr11: 71,447,794-71,499,262 MIR6754, DHCR7, 1 more genes
    nsv3921153copy number variation1nstd102humanUncertain significance GRCh38 chr11: 71,164,008-72,309,374 , GRCh37 chr11: 71,088,949-72,020,418 , NCBI36 chr11: 70,552,702-71,698,066 LOC220077, PHOX2A, 47 more genes
    nsv3919985copy number variation1nstd102humanPathogenic NCBI36 chr11: 70,668,528-72,528,680 , GRCh37.p13 chr11: 70,990,880-72,851,032 , GRCh38.p12 chr11: 71,279,834-73,139,987 OR7E128P, OR7E87P, 68 more genes
    nsv3917463copy number variation1nstd102humanLikely pathogenic NCBI36 chr11: 67,555,736-70,982,189 , GRCh37 chr11: 67,799,160-71,304,541 , GRCh38 chr11: 68,031,693-71,593,495 CCND1, CHKA, 71 more genes
    nsv3915827copy number variation1nstd102humanPathogenic NCBI36 chr11: 70,530,702-70,972,913 , GRCh37.p13 chr11|NW_004070871.1: 636,221-872,115 , GRCh37.p13 chr11: 70,853,054-71,295,265 , GRCh38.p12 chr11: 71,142,008-71,584,219 ACTE1P, KRTAP5-14P, 11 more genes
    nsv3909284copy number variation1nstd102humanPathogenic GRCh37 chr11: 71,154,800-71,157,788 , GRCh38.p12 chr11: 71,443,754-71,446,742 DHCR7
    nsv3908873copy number variation2nstd102humanPathogenic GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576 IGHMBP2, SYTL2, 2829 more genes
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