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Items: 12

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    Number of Variants: 12

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 VTCN1, AMYP1, 320 more genes
    nsv3893971copy number variation1nstd102humanPathogenic GRCh37 chr1: 117,221,744-119,832,652 , GRCh38 chr1: 116,679,122-119,290,029 , NCBI36 chr1: 117,023,267-119,634,175 VTCN1, RNA5SP55, 40 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 VTCN1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 VTCN1, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 VTCN1, RNU1-153P, 4887 more genes
    nsv3882464copy number variation1nstd102humanPathogenic GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985 VTCN1, LINC02607, 513 more genes
    nsv3890331copy number variation1nstd102humanPathogenic NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655 VTCN1, OR11I1P, 324 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 VTCN1, GAPDHP23, 243 more genes
    nsv3898188copy number variation1nstd102humanPathogenic NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827 VTCN1, AP4B1-AS1, 198 more genes
    nsv3902511copy number variation1nstd102humanPathogenic NCBI36 chr1: 116,403,765-120,474,160 , GRCh38 chr1: 116,059,621-120,130,051 , GRCh37 chr1: 116,602,242-120,672,637 VTCN1, LINC01779, 89 more genes
    nsv6636499copy number variation1nstd102humanUncertain significance GRCh37 chr1: 117,590,849-117,994,398 , GRCh38.p12 chr1: 117,048,227-117,451,776 VTCN1, RPS15AP9, 6 more genes
    nsv3901616copy number variation1nstd102humanUncertain significance GRCh37 chr1: 117,294,629-117,852,464 , NCBI36 chr1: 117,096,152-117,653,987 , GRCh38 chr1: 116,752,007-117,309,842 VTCN1, CD2, 11 more genes
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