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Items: 1 to 20 of 127

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    Number of Variants: 20

    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 AMYP1, MIR4256, 320 more genes
    nsv5034159inversion1nstd200human GRCh38 chr1: 116,142,229-116,533,502 , GRCh37.p13 chr1: 116,684,850-117,076,124 LINC01779, CD58, 8 more genes
    nsv4889402inversion1nstd200human GRCh37 chr1: 116,684,850-117,076,124 , GRCh38.p12 chr1: 116,142,229-116,533,502 LINC01779, NAP1L4P1, 8 more genes
    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
    nsv4369244copy number variation1nstd173human GRCh37 chr1: 116,925,151-118,184,675 , GRCh38.p12 chr1: 116,382,529-117,642,053 TRIM45, FTH1P22, 32 more genes
    nsv4317291inversion1nstd166human GRCh37.p13 chr1: 116,952,088-116,952,974 , GRCh38.p12 chr1: 116,409,466-116,410,352 ATP1A1, ATP1A1-AS1
    nsv3970702copy number variation1nstd168human GRCh38 chr1: 116,401,092-116,440,819 , GRCh37.p13 chr1: 116,943,714-116,983,441 ATP1A1-AS1, RNU6-817P, 2 more genes
    nsv3969335insertion1nstd168human GRCh38 chr1: 116,410,366-116,451,832 , GRCh37.p13 chr1: 116,952,988-116,994,454 ATP1A1, ATP1A1-AS1, 2 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 LINC01779, REG4, 89 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
    nsv3879566copy number variation1nstd102humanUncertain significance GRCh37 chr1: 116,797,188-116,997,613 , GRCh38.p12 chr1: 116,254,566-116,454,991 RNU6-817P, LINC01762, 3 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 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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