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Items: 1 to 20 of 98

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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
    nsv5947817insertion1nstd209human GRCh38 chr1: 20,498,394-20,498,394 , GRCh37.p13 chr1: 20,824,887-20,824,887 MUL1
    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
    nsv5604700insertion1nstd207human GRCh38 chr1: 20,498,394-20,498,394 , GRCh37.p13 chr1: 20,824,887-20,824,887 MUL1
    nsv5550758insertion1nstd206human GRCh38 chr1: 20,498,432-20,498,445 , GRCh37.p13 chr1: 20,824,925-20,824,938 MUL1
    nsv5346036translocation1nstd200human GRCh37 chr1: 20,424,601-20,424,601 , GRCh37 chr1: 20,824,005-20,824,005 , GRCh38.p12 chr1: 20,098,108-20,098,108 , GRCh38.p12 chr1: 20,497,512-20,497,512 MUL1
    nsv5324213translocation1nstd204human GRCh38.p13 chr1: 20,098,108-20,098,108 , GRCh38.p13 chr1: 20,497,512-20,497,512 , GRCh37.p13 chr1: 20,424,601-20,424,601 , GRCh37.p13 chr1: 20,824,005-20,824,005 MUL1
    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
    nsv5218541copy number variation1nstd204human GRCh38.p13 chr1: 20,505,349-20,508,218 , GRCh37.p13 chr1: 20,831,842-20,834,711 MUL1
    nsv5209243copy number variation1nstd204human GRCh38.p13 chr1: 20,497,501-20,536,700 , GRCh37.p13 chr1: 20,823,994-20,863,193 RPS4XP4, MUL1
    nsv5207514copy number variation1nstd204human GRCh38.p13 chr1: 20,505,905-20,536,500 , GRCh37.p13 chr1: 20,832,398-20,862,993 RPS4XP4, MUL1
    nsv5206261copy number variation1nstd204human GRCh38.p13 chr1: 20,497,413-20,505,248 , GRCh37.p13 chr1: 20,823,906-20,831,741 MUL1
    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
    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
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