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Items: 1 to 20 of 207

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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
    nsv5950615copy number variation1nstd209human GRCh38 chr21: 33,488,226-33,488,294 , GRCh37.p13 chr21: 34,860,533-34,860,601 DNAJC28
    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
    nsv5547885copy number variation1nstd206human GRCh38 chr21: 33,488,227-33,488,295 , GRCh37.p13 chr21: 34,860,534-34,860,602 DNAJC28
    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
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5290060copy number variation1nstd204human GRCh38.p13 chr21: 33,485,653-33,488,584 , GRCh37.p13 chr21: 34,857,960-34,860,891 DNAJC28
    nsv5178432mobile element insertion1nstd203human GRCh38 chr21: 33,487,389-33,487,389 , GRCh37.p13 chr21: 34,859,696-34,859,696 DNAJC28
    nsv5028839copy number variation1nstd200human GRCh38 chr21: 33,491,213-33,495,549 , GRCh37.p13 chr21: 34,863,520-34,867,856 DNAJC28
    nsv5028838copy number variation1nstd200human GRCh38 chr21: 33,479,932-33,488,085 , GRCh37.p13 chr21: 34,852,239-34,860,392 RPS5P3, TMEM50B, 1 more genes
    nsv4863132copy number variation1nstd200human GRCh37 chr21: 34,852,239-34,860,392 , GRCh38.p12 chr21: 33,479,932-33,488,085 , GRCh38.p12 chr21|NW_003315970.2: 84,061-92,214 TMEM50B, DNAJC28, 1 more genes
    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
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
    nsv4382575copy number variation2nstd173human GRCh37 chr21: 15,006,458-48,097,372 , GRCh38.p12 chr21: 13,634,137-46,677,460 , CBR3-AS1, 639 more genes
    nsv4378831copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , LOC105369299, 639 more genes
    nsv4369498copy number variation1nstd173human GRCh37 chr21: 15,547,727-45,685,800 , GRCh38.p12 chr21: 14,175,406-44,265,917 , LINC00114, 520 more genes
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