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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5173309mobile element insertion1nstd203human GRCh38 chr1: 113,877,129-113,877,145 , GRCh37.p13 chr1: 114,419,751-114,419,767 BCL2L15, AP4B1-AS1
    nsv4773746copy number variation1nstd200human GRCh37 chr1: 114,427,860-114,428,173 , GRCh38.p12 chr1: 113,885,238-113,885,551 BCL2L15, AP4B1-AS1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4673999copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 114,024,461-116,189,135 , GRCh38.p12 chr1: 113,481,839-115,646,514 AMPD1, NGF, 43 more genes
    nsv4593819copy number variation2nstd183human GRCh37 chr1: 113,862,952-114,901,117 , GRCh38.p12 chr1: 113,320,330-114,358,495 MAGI3, RSBN1, 17 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 AP4B1-AS1, HNRNPA1P43, 198 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 OR11I1P, NHLH2, 324 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , 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 LINC02607, RNVU1-19, 513 more genes
    nsv3877981copy number variation1nstd102humanLikely benign GRCh37 chr1: 114,209,101-114,831,532 , GRCh38.p12 chr1: 113,666,479-114,288,910 OLFML3, PHTF1, 14 more genes
    nsv3877482copy number variation1nstd102humanUncertain significance GRCh37 chr1: 114,011,163-114,803,749 , GRCh38.p12 chr1: 113,468,541-114,261,127 MAGI3, RPL13AP10, 14 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3168664copy number variation1nstd158human GRCh38.p12 chr1: 113,885,928-113,961,867 , GRCh37 chr1: 114,428,550-114,504,489 AP4B1, DCLRE1B, 4 more genes
    nsv3168056copy number variation1nstd158human GRCh38.p12 chr1: 84,243,714-179,997,709 , GRCh37 chr1: 84,709,397-179,966,844 , ABCA4, 1909 more genes
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