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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5955164insertion1nstd209human GRCh38 chr2: 219,270,703-219,270,703 , GRCh37.p13 chr2: 220,135,425-220,135,425 TUBA4B
    nsv5682577mobile element insertion1nstd211human GRCh38 chr2: 219,258,691-219,258,691 , GRCh37.p13 chr2: 220,123,413-220,123,413 TUBA4B
    nsv5620733insertion1nstd207human GRCh38 chr2: 219,270,701-219,270,701 , GRCh37.p13 chr2: 220,135,423-220,135,423 TUBA4B
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5443298copy number variation1nstd206human GRCh38 chr2: 219,268,247-219,269,474 , GRCh37.p13 chr2: 220,132,969-220,134,196 TUBA4B
    nsv5441169copy number variation1nstd206human GRCh38 chr2: 219,269,138-219,270,511 , GRCh37.p13 chr2: 220,133,860-220,135,233 TUBA4B
    nsv5399041mobile element insertion1nstd206human GRCh38 chr2: 219,258,691-219,258,742 , GRCh37.p13 chr2: 220,123,413-220,123,464 TUBA4B
    nsv5361330translocation1nstd200human GRCh38 chr2: 219,270,511-219,270,511 , GRCh38 chr2: 219,269,138-219,269,138 , GRCh37.p13 chr2: 220,133,860-220,133,860 , GRCh37.p13 chr2: 220,135,233-220,135,233 TUBA4B
    nsv5331240translocation1nstd200human GRCh37 chr2: 220,133,860-220,133,860 , GRCh37 chr2: 220,135,233-220,135,233 , GRCh38.p12 chr2: 219,269,138-219,269,138 , GRCh38.p12 chr2: 219,270,511-219,270,511 TUBA4B
    nsv5215828copy number variation1nstd204human GRCh38.p13 chr2: 219,192,501-219,347,300 , GRCh37.p13 chr2: 220,057,223-220,212,022 DNAJB2, TUBA4B, 10 more genes
    nsv5198919mobile element insertion1nstd203human GRCh38 chr2: 219,270,692-219,270,703 , GRCh37.p13 chr2: 220,135,414-220,135,425 TUBA4B
    nsv5195326mobile element insertion1nstd203human GRCh38 chr2: 219,270,689-219,270,703 , GRCh37.p13 chr2: 220,135,411-220,135,425 TUBA4B
    nsv5190561mobile element insertion1nstd203human GRCh38 chr2: 219,270,690-219,270,703 , GRCh37.p13 chr2: 220,135,412-220,135,425 TUBA4B
    nsv5189421mobile element insertion1nstd203human GRCh38 chr2: 219,270,688-219,270,703 , GRCh37.p13 chr2: 220,135,410-220,135,425 TUBA4B
    nsv5188179mobile element insertion1nstd203human GRCh38 chr2: 219,270,687-219,270,703 , GRCh37.p13 chr2: 220,135,409-220,135,425 TUBA4B
    nsv4916936copy number variation1nstd200human GRCh38 chr2: 219,268,247-219,269,474 , GRCh37.p13 chr2: 220,132,969-220,134,196 TUBA4B
    nsv4916935copy number variation1nstd200human GRCh38 chr2: 219,262,928-219,264,311 , GRCh37.p13 chr2: 220,127,650-220,129,033 TUBA4B
    nsv4796022copy number variation1nstd200human GRCh37 chr2: 220,132,968-220,134,197 , GRCh38.p12 chr2: 219,268,246-219,269,475 TUBA4B
    nsv4796021copy number variation1nstd200human GRCh37 chr2: 220,127,650-220,129,033 , GRCh38.p12 chr2: 219,262,928-219,264,311 TUBA4B
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