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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5876298copy number variation1nstd209human GRCh38 chr1: 119,879,641-119,902,331 , GRCh37.p13 chr1: 120,422,264-120,444,954 ADAM30, NOTCH2P1
    nsv5827940copy number variation2nstd209human GRCh38 chr1: 119,897,004-119,898,303 , GRCh37.p13 chr1: 120,439,627-120,440,926 ADAM30
    nsv5827737copy number variation1nstd209human GRCh38 chr1: 119,880,141-119,901,723 , GRCh37.p13 chr1: 120,422,764-120,444,346 ADAM30, NOTCH2P1
    nsv4891041copy number variation1nstd200human GRCh38 chr1: 119,879,630-119,902,341 , GRCh37.p13 chr1: 120,422,253-120,444,964 NOTCH2P1, ADAM30
    nsv4781158copy number variation1nstd200human GRCh37 chr1: 120,436,931-120,453,850 , GRCh38.p12 chr1: 119,894,308-119,911,227 NOTCH2, ADAM30
    nsv4773880copy number variation1nstd200human GRCh37 chr1: 120,422,263-120,444,955 , GRCh38.p12 chr1: 119,879,640-119,902,332 ADAM30, NOTCH2P1
    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
    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
    nsv4068679copy number variation1nstd166human GRCh37.p13 chr1: 120,429,293-120,438,132 , GRCh38.p12 chr1: 119,886,670-119,895,509 ADAM30, NOTCH2P1
    nsv4057538copy number variation1nstd166human GRCh37.p13 chr1: 120,422,288-120,444,955 , GRCh38.p12 chr1: 119,879,665-119,902,332 NOTCH2P1, ADAM30
    nsv3966298copy number variation1nstd168human GRCh38 chr1: 119,791,059-120,021,014 , GRCh37.p13 chr1: 120,333,682-120,471,049 , NOTCH2, 5 more genes
    nsv3904817copy number variation1nstd102humanUncertain significance GRCh37 chr1: 120,323,527-120,471,049 , GRCh38 chr1: 119,780,904-119,977,655 , NCBI36 chr1: 120,125,050-120,321,801 PFN1P9, NOTCH2, 4 more genes
    nsv3903998copy number variation1nstd102humanUncertain significance GRCh38 chr1: 119,772,887-120,006,962 , NCBI36 chr1: 120,117,033-120,351,108 , GRCh37 chr1: 120,315,510-120,549,585 NOTCH2, NOTCH2P1, 4 more genes
    nsv3903146copy number variation1nstd102humanUncertain significance GRCh38 chr1: 119,816,901-119,977,655 , NCBI36 chr1: 120,161,047-120,321,801 , GRCh37 chr1: 120,359,524-120,471,049 NOTCH2, NOTCH2P1, 3 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
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