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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881875copy number variation1nstd209human GRCh38 chr1: 26,345,031-26,345,081 , GRCh37.p13 chr1: 26,671,522-26,671,572 CRYBG2
    nsv5879755copy number variation1nstd209human GRCh38 chr1: 26,334,743-26,335,296 , GRCh37.p13 chr1: 26,661,234-26,661,787 CRYBG2
    nsv5673254copy number variation1nstd102humanPathogenic GRCh37 chr1: 25,870,180-26,795,632 , GRCh38.p12 chr1: 25,543,689-26,469,141 LDLRAP1, AUNIP, 36 more genes
    nsv5584304copy number variation1nstd207human GRCh38 chr1: 26,345,014-26,345,064 , GRCh37.p13 chr1: 26,671,505-26,671,555 CRYBG2
    nsv5575741copy number variation1nstd207human GRCh38 chr1: 26,334,743-26,335,296 , GRCh37.p13 chr1: 26,661,234-26,661,787 CRYBG2
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv5424280copy number variation1nstd206human GRCh38 chr1: 26,334,427-26,335,297 , GRCh37.p13 chr1: 26,660,918-26,661,788 CRYBG2
    nsv5375702translocation1nstd200human GRCh38 chr1: 26,334,768-26,334,768 , GRCh38 chr1: 26,335,297-26,335,297 , GRCh37.p13 chr1: 26,661,788-26,661,788 , GRCh37.p13 chr1: 26,661,259-26,661,259 CRYBG2
    nsv5350637translocation1nstd200human GRCh38 chr1: 26,333,370-26,333,370 , GRCh38 chr1: 26,333,287-26,333,287 , GRCh37.p13 chr1: 26,659,778-26,659,778 , GRCh37.p13 chr1: 26,659,861-26,659,861 CRYBG2
    nsv5343304translocation1nstd200human GRCh37 chr1: 26,659,861-26,659,861 , GRCh37 chr1: 26,659,778-26,659,778 , GRCh38.p12 chr1: 26,333,287-26,333,287 , GRCh38.p12 chr1: 26,333,370-26,333,370 CRYBG2
    nsv5291092copy number variation1nstd204human GRCh38.p13 chr1: 26,290,633-26,327,557 , GRCh37.p13 chr1: 26,617,124-26,654,048 CD52, CRYBG2, 2 more genes
    nsv5209403copy number variation1nstd204human GRCh38.p13 chr1: 26,319,703-26,327,674 , GRCh37.p13 chr1: 26,646,194-26,654,165 CRYBG2, RPL34P4, 1 more genes
    nsv5203841copy number variation1nstd204human GRCh38.p13 chr1: 26,291,401-26,333,100 , GRCh37.p13 chr1: 26,617,892-26,659,591 CD52, RPL34P4, 2 more genes
    nsv5203697copy number variation1nstd204human GRCh38.p13 chr1: 26,352,601-26,357,400 , GRCh37.p13 chr1: 26,679,092-26,683,891 CRYBG2
    nsv5071547mobile element insertion1nstd203human GRCh38 chr1: 26,333,014-26,333,037 , GRCh37.p13 chr1: 26,659,505-26,659,528 CRYBG2
    nsv4895482copy number variation1nstd200human GRCh38 chr1: 26,330,779-26,332,675 , GRCh37.p13 chr1: 26,657,270-26,659,166 CRYBG2
    nsv4780714copy number variation1nstd200human GRCh37 chr1: 26,617,134-26,654,045 , GRCh38.p12 chr1: 26,290,643-26,327,554 CD52, RPL34P4, 2 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
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