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Items: 1 to 20 of 290

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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
    nsv5705419mobile element insertion2nstd211human GRCh38 chr21: 33,562,014-33,562,014 , GRCh37.p13 chr21: 34,934,320-34,934,320 SON
    nsv5673423copy number variation1nstd102humanPathogenic GRCh37 chr21: 34,540,717-35,013,574 , GRCh38.p12 chr21: 33,168,412-33,641,268 IFNGR2, RPS5P3, 16 more genes
    nsv5598271copy number variation1nstd207human GRCh38 chr21: 33,577,604-33,577,657 , GRCh37.p13 chr21: 34,949,910-34,949,963 DONSON, SON
    nsv5544740copy number variation1nstd206human GRCh38 chr21: 33,542,064-33,542,347 , GRCh37.p13 chr21: 34,914,370-34,914,653 SON, GART
    nsv5542729copy number variation1nstd206human GRCh38 chr21: 33,563,398-33,563,449 , GRCh37.p13 chr21: 34,935,704-34,935,755 , SON
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5537283copy number variation1nstd206human GRCh38 chr21: 33,548,156-33,548,297 , GRCh37.p13 chr21: 34,920,462-34,920,603 SON
    nsv5536968copy number variation1nstd206human GRCh38 chr21: 33,552,917-33,552,972 , GRCh37.p13 chr21: 34,925,223-34,925,278 SON
    nsv5419298mobile element insertion1nstd206human GRCh38 chr21: 33,562,014-33,562,065 , GRCh37.p13 chr21: 34,934,320-34,934,371 SON
    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
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5191851mobile element insertion1nstd203human GRCh38 chr21: 33,557,016-33,557,031 , GRCh37.p13 chr21: 34,929,322-34,929,337 SON
    nsv5059960copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 34,922,536-34,926,550 , GRCh38 chr21: 33,550,230-33,554,244 SON, MIR6501
    nsv4746816copy number variation1nstd199human GRCh37 chr21: 34,949,934-34,949,996 , GRCh38.p12 chr21: 33,577,628-33,577,690 SON, DONSON
    nsv4738429copy number variation1nstd199human GRCh37 chr21: 34,935,698-34,935,749 , GRCh38.p12 chr21: 33,563,392-33,563,443 , SON
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4729759copy number variation1nstd102humanPathogenic GRCh37 chr21: 34,379,096-35,572,731 , GRCh38.p12 chr21: 33,006,788-34,200,430 ITSN1, ATP5PO, 30 more genes
    nsv4684072copy number variation1nstd102humanPathogenic GRCh37 chr21: 33,205,064-36,039,022 , GRCh38.p12 chr21: 31,832,752-34,666,723 LOC101928107, CFAP298-TCP10L, 62 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
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