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Items: 1 to 20 of 567

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137191copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,957,148-6,553,454 , GRCh38.p12 chr1: 2,025,709-6,493,394 LOC102724429, TNFRSF14, 86 more genes
    nsv7137045copy number variation1nstd102humanPathogenic GRCh37 chr1: 536,777-6,012,896 , GRCh38.p12 chr1: 601,397-5,952,836 MIR200B, LOC105378608, 172 more genes
    nsv7099171copy number variation1nstd231human GRCh38.p12 chr1: 2,245,413-2,454,809 , GRCh37 chr1: 2,176,852-2,386,248 PEX10, SKI, 4 more genes
    nsv7099018copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-2,580,976 , GRCh38.p12 chr1: 10,001-2,649,537 DVL1, LOC100129534, 148 more genes
    nsv7096030copy number variation1nstd102humanUncertain significance GRCh37 chr1: 2,337,205-2,343,941 , GRCh38.p12 chr1: 2,405,766-2,412,502 RER1, PLCH2, 1 more genes
    nsv7096029copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,337,195-2,340,307 , GRCh38.p12 chr1: 2,405,756-2,408,868 RER1, PEX10
    nsv7095976copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,339,881-2,340,307 , GRCh38.p12 chr1: 2,408,442-2,408,868 PEX10
    nsv7095515copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,341,800-2,343,951 , GRCh38.p12 chr1: 2,410,361-2,412,512 PLCH2, PEX10
    nsv7058041inversion1nstd229human GRCh38 chr1: 1,845,355-9,534,096 , GRCh37.p13 chr1: 1,776,794-9,594,155 RPL37P9, TMEM52, 152 more genes
    nsv7044270inversion1nstd229human GRCh38 chr1: 1,133,718-2,842,494 , GRCh37.p13 chr1: 1,069,098-2,759,059 LOC105378586, MIR6726, 91 more genes
    nsv7039247inversion1nstd229human GRCh38 chr1: 2,372,052-2,638,855 , GRCh37.p13 chr1: 2,303,491-2,570,294 PEX10, MMEL1, 11 more genes
    nsv7039008inversion1nstd229human GRCh38 chr1: 2,403,109-2,403,163 , GRCh37.p13 chr1: 2,334,548-2,334,602 RER1, PEX10
    nsv6647732copy number variation1nstd229human GRCh38 chr1: 2,403,301-2,407,400 , GRCh37.p13 chr1: 2,334,740-2,338,839 RER1, PEX10
    nsv6647407copy number variation1nstd229human GRCh38 chr1: 2,326,897-2,492,164 , GRCh37.p13 chr1: 2,258,336-2,423,603 PLCH2, LOC100129534, 3 more genes
    nsv6647395copy number variation1nstd229human GRCh38 chr1: 2,284,001-2,592,300 , GRCh37.p13 chr1: 2,215,440-2,523,739 TNFRSF14, SKI, 11 more genes
    nsv6647286copy number variation1nstd229human GRCh38 chr1: 2,412,434-2,445,051 , GRCh37.p13 chr1: 2,343,873-2,376,490 PEX10, PLCH2
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6637082copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,056,695-2,447,725 , GRCh38.p12 chr1: 2,125,256-2,516,286 PRKCZ, PRKCZ-AS1, 10 more genes
    nsv6636661copy number variation1nstd102humanUncertain significance GRCh37 chr1: 1,130,311-2,397,177 , GRCh38.p12 chr1: 1,194,931-2,465,738 ATAD3C, ACAP3, 69 more genes
    nsv6636408copy number variation1nstd102humanUncertain significance GRCh37 chr1: 2,194,087-4,738,355 , GRCh38.p12 chr1: 2,262,648-4,678,295 LINC01777, LOC105378606, 55 more genes
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