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Items: 1 to 20 of 131

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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
    nsv5718892mobile element insertion1nstd211human GRCh38 chr1: 19,671,824-19,671,824 , GRCh37.p13 chr1: 19,998,317-19,998,317 HTR6
    nsv5556697mobile element insertion1nstd206human GRCh38 chr1: 19,671,824-19,671,875 , GRCh37.p13 chr1: 19,998,317-19,998,368 HTR6
    nsv5424970copy number variation1nstd206human GRCh38 chr1: 19,672,502-19,672,586 , GRCh37.p13 chr1: 19,998,995-19,999,079 HTR6
    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
    nsv5215152copy number variation1nstd204human GRCh38.p13 chr1: 19,608,201-20,098,100 , GRCh37.p13 chr1: 19,934,695-20,424,593 LOC100419911, NBL1, 12 more genes
    nsv4903151copy number variation1nstd200human GRCh38 chr1: 19,660,168-19,663,910 , GRCh37.p13 chr1: 19,986,661-19,990,403 HTR6
    nsv4895171copy number variation1nstd200human GRCh38 chr1: 19,672,502-19,672,586 , GRCh37.p13 chr1: 19,998,995-19,999,079 HTR6
    nsv4772608copy number variation1nstd200human GRCh37 chr1: 19,998,995-19,999,079 , GRCh38.p12 chr1: 19,672,502-19,672,586 HTR6
    nsv4772222copy number variation1nstd200human GRCh37 chr1: 19,986,661-19,990,403 , GRCh38.p12 chr1: 19,660,168-19,663,910 HTR6
    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
    nsv4728594copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,809,464-20,123,500 , GRCh38.p12 chr1: 19,482,970-19,797,007 LOC105376819, NBL1, 10 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
    nsv4570095mobile element insertion1nstd166human GRCh37.p13 chr1: 19,996,035-19,996,035 , GRCh38.p12 chr1: 19,669,542-19,669,542 HTR6
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
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