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Items: 1 to 20 of 547

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5965841copy number variation1nstd209human GRCh38 chr21: 31,985,085-31,985,172 , GRCh37.p13 chr21: 33,357,398-33,357,485 HUNK
    nsv5706651mobile element insertion1nstd211human GRCh38 chr21: 31,892,148-31,892,148 , GRCh37.p13 chr21: 33,264,461-33,264,461 HUNK
    nsv5671894insertion1nstd207human GRCh38 chr21: 31,947,172-31,947,172 , GRCh37.p13 chr21: 33,319,484-33,319,484 HUNK
    nsv5666937insertion1nstd207human GRCh38 chr21: 31,918,956-31,918,956 , GRCh37.p13 chr21: 33,291,268-33,291,268 HUNK
    nsv5604338copy number variation1nstd207human GRCh38 chr21: 31,918,956-31,919,011 , GRCh37.p13 chr21: 33,291,268-33,291,323 HUNK
    nsv5603722copy number variation1nstd207human GRCh38 chr21: 31,918,984-31,919,123 , GRCh37.p13 chr21: 33,291,296-33,291,435 HUNK
    nsv5553324copy number variation1nstd206human GRCh38 chr21: 31,979,244-31,980,270 , GRCh37.p13 chr21: 33,351,557-33,352,583 HUNK
    nsv5544216copy number variation1nstd206human GRCh38 chr21: 31,883,899-31,887,175 , GRCh37.p13 chr21: 33,256,212-33,259,488 HUNK
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5381310copy number variation1nstd102humanUncertain significance GRCh37 chr21: 32,439,271-37,133,458 , GRCh38.p12 chr21: 31,066,952-35,761,160 LINC00945, CFAP298-TCP10L, 83 more genes
    nsv5375541translocation1nstd200human GRCh38 chr21: 31,958,387-31,958,387 , GRCh38 chr21: 31,957,131-31,957,131 , GRCh37.p13 chr21: 33,330,699-33,330,699 , GRCh37.p13 chr21: 33,329,443-33,329,443 HUNK
    nsv5375540translocation1nstd200human GRCh38 chr21: 31,948,277-31,948,277 , GRCh38 chr21: 31,957,510-31,957,510 , GRCh37.p13 chr21: 33,329,822-33,329,822 , GRCh37.p13 chr21: 33,320,589-33,320,589 HUNK
    nsv5337074translocation1nstd200human GRCh37 chr21: 33,320,589-33,320,589 , GRCh37 chr21: 33,329,822-33,329,822 , GRCh38.p12 chr21: 31,948,277-31,948,277 , GRCh38.p12 chr21: 31,957,510-31,957,510 HUNK
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5195895mobile element insertion1nstd203human GRCh38 chr21: 31,927,013-31,927,058 , GRCh37.p13 chr21: 33,299,325-33,299,370 HUNK
    nsv5029356copy number variation1nstd200human GRCh38 chr21: 31,989,510-32,018,358 , GRCh37.p13 chr21: 33,361,823-33,390,671 HUNK
    nsv5029355copy number variation1nstd200human GRCh38 chr21: 31,901,521-32,375,106 , GRCh37.p13 chr21: 33,273,833-33,747,415 MIS18A, MRAP, 4 more genes
    nsv5029354copy number variation1nstd200human GRCh38 chr21: 31,878,579-31,878,771 , GRCh37.p13 chr21: 33,250,892-33,251,084 HUNK
    nsv5029353copy number variation1nstd200human GRCh38 chr21: 31,878,163-31,881,624 , GRCh37.p13 chr21: 33,250,476-33,253,937 HUNK
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