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Items: 1 to 20 of 422

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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
    nsv5884620copy number variation1nstd209human GRCh38 chr21: 34,097,875-34,099,974 , GRCh37.p13 chr21: 35,470,174-35,472,273 MRPS6, SLC5A3
    nsv5591163copy number variation1nstd207human GRCh38 chr21: 34,139,662-34,141,492 , GRCh37.p13 chr21: 35,511,962-35,513,792 MRPS6
    nsv5541090copy number variation1nstd206human GRCh38 chr21: 34,108,086-34,112,699 , GRCh37.p13 chr21: 35,480,385-35,484,998 MRPS6
    nsv5540288copy number variation1nstd206human GRCh38 chr21: 34,139,663-34,141,495 , GRCh37.p13 chr21: 35,511,963-35,513,795 MRPS6
    nsv5540115copy number variation1nstd206human GRCh38 chr21: 34,123,425-34,126,348 , GRCh37.p13 chr21: 35,495,725-35,498,648 MRPS6
    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
    nsv5175332mobile element insertion1nstd203human GRCh38 chr21: 34,127,369-34,127,387 , GRCh37.p13 chr21: 35,499,669-35,499,687 MRPS6
    nsv5172347mobile element insertion1nstd203human GRCh38 chr21: 34,092,155-34,092,167 , GRCh37.p13 chr21: 35,464,454-35,464,466 SLC5A3, MRPS6
    nsv5029370copy number variation1nstd200human GRCh38 chr21: 34,045,256-34,073,037 , GRCh37.p13 chr21: 35,417,556-35,445,337 LOC105372790, MRPS6, 1 more genes
    nsv5028862copy number variation1nstd200human GRCh38 chr21: 34,139,663-34,141,495 , GRCh37.p13 chr21: 35,511,963-35,513,795 MRPS6
    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
    nsv4683865copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 35,304,341-36,865,875 , GRCh38.p12 chr21: 33,932,037-35,493,577 RUNX1, RCAN1, 22 more genes
    nsv4682318copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 35,304,355-36,865,958 , GRCh38.p12 chr21: 33,932,051-35,493,660 RUNX1, RCAN1, 22 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
    nsv4633161copy number variation1nstd183human GRCh37 chr21: 35,445,350-35,446,724 , GRCh38.p12 chr21: 34,073,050-34,074,424 MRPS6, SLC5A3
    nsv4619440copy number variation1nstd183human GRCh37 chr21: 35,477,928-35,507,622 , GRCh38.p12 chr21: 34,105,629-34,135,322 RPS5P2, SLC5A3, 1 more genes
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