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Items: 1 to 20 of 101

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5426050copy number variation1nstd206human GRCh38 chr1: 20,187,928-20,188,030 , GRCh37.p13 chr1: 20,514,421-20,514,523 UBXN10
    nsv5285145copy number variation1nstd204human GRCh38.p13 chr1: 19,608,167-20,538,182 , GRCh37.p13 chr1: 19,934,661-20,864,675 PLA2G2C, LOC105376826, 25 more genes
    nsv5060183mobile element insertion1nstd203human GRCh38 chr1: 20,195,758-20,195,772 , GRCh37.p13 chr1: 20,522,251-20,522,265 LOC105376825, UBXN10
    nsv4772227copy number variation1nstd200human GRCh37 chr1: 20,349,694-20,563,780 , GRCh38.p12 chr1: 20,023,201-20,237,287 PLA2G5, PLA2G2F, 6 more genes
    nsv4772221copy number variation1nstd200human GRCh37 chr1: 19,934,671-20,864,669 , GRCh38.p12 chr1: 19,608,177-20,538,176 PLA2G5, NBL1, 25 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
    nsv4728344copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002 NBL1, AKR7A2, 98 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 RNU1-6P, TRG-CCC4-1, 150 more genes
    nsv4674216copy number variation1nstd102humanUncertain significance GRCh37 chr1: 20,100,416-20,549,013 , GRCh38.p12 chr1: 19,773,923-20,222,520 PLA2G5, LOC105376825, 13 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4049549copy number variation1nstd166human GRCh37.p13 chr1: 20,509,871-20,510,684 , GRCh38.p12 chr1: 20,183,378-20,184,191 UBXN10
    nsv4047023copy number variation1nstd166human GRCh37.p13 chr1: 20,489,849-20,542,174 , GRCh38.p12 chr1: 20,163,356-20,215,681 PLA2G2C, UBXN10, 2 more genes
    nsv4034521copy number variation1nstd166human GRCh37.p13 chr1: 20,514,421-20,514,523 , GRCh38.p12 chr1: 20,187,928-20,188,030 UBXN10
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 EMC1-AS1, TRV-CAC11-2, 166 more genes
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