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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5331358translocation1nstd200human GRCh37 chr1: 120,004,698-120,004,698 , GRCh37 chr1: 120,076,385-120,076,385 , GRCh38.p12 chr1: 119,462,075-119,462,075 , GRCh38.p12 chr1: 119,533,762-119,533,762 GAPDHP23, GAPDHP32
    nsv5287802copy number variation1nstd204human GRCh38.p13 chr1: 119,532,015-119,532,705 , GRCh37.p13 chr1: 120,074,638-120,075,328 GAPDHP32
    nsv4891025copy number variation1nstd200human GRCh38 chr1: 119,533,763-119,533,847 , GRCh37.p13 chr1: 120,076,386-120,076,470 GAPDHP32
    nsv4773869copy number variation1nstd200human GRCh37 chr1: 120,074,648-120,075,328 , GRCh38.p12 chr1: 119,532,025-119,532,705 GAPDHP32
    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
    nsv4673945copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,836,834-120,289,623 , GRCh38.p12 chr1: 119,294,211-119,747,000 GAPDHP58, HSD3BP2, 21 more genes
    nsv4453677copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,425,395-120,527,495 , GRCh38.p12 chr1: 118,882,772-119,984,872 HSD3B2, GAPDHP23, 36 more genes
    nsv4411458copy number variation1nstd174human GRCh37 chr1: 119,847,447-120,154,798 , GRCh38.p12 chr1: 119,304,824-119,612,175 HSD3B1, HSD3BP4, 17 more genes
    nsv4394621copy number variation1nstd174human GRCh37 chr1: 120,072,570-120,144,019 , GRCh38.p12 chr1: 119,529,947-119,601,396 HSD3BP4, HSD3BP5, 5 more genes
    nsv3902952copy number variation1nstd102humanUncertain significance NCBI36 chr1: 119,278,003-120,321,801 , GRCh38 chr1: 118,933,857-119,977,655 , GRCh37 chr1: 119,476,480-120,471,049 NBPF7P, LOC105378933, 36 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
    nsv3891366copy number variation1nstd102humanLikely benign NCBI36 chr1: 119,096,385-120,321,742 , GRCh38 chr1: 118,752,239-119,977,596 , GRCh37 chr1: 119,294,862-120,520,219 HSD3BP2, LOC105378933, 37 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
    nsv3885279copy number variation1nstd102humanUncertain significance GRCh37 chr1: 119,806,427-120,438,201 , GRCh38.p12 chr1: 119,263,804-119,895,578 HSD3BP1, GAPDHP33, 27 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
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