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Items: 1 to 20 of 277

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5877155copy number variation1nstd209human GRCh38 chr1: 207,119,017-207,119,754 , GRCh37.p13 chr1: 207,292,362-207,293,099 C4BPA
    nsv5578589copy number variation1nstd207human GRCh38 chr1: 207,119,028-207,119,763 , GRCh37.p13 chr1: 207,292,373-207,293,108 C4BPA
    nsv5558418inversion1nstd206human GRCh38 chr1: 207,118,714-207,119,876 , GRCh37.p13 chr1: 207,292,059-207,293,221 C4BPA
    nsv5450547copy number variation1nstd206human GRCh38 chr1: 207,102,683-207,103,411 , GRCh37.p13 chr1: 207,276,028-207,276,756 C4BPA
    nsv5449817copy number variation1nstd206human GRCh38 chr1: 207,119,017-207,119,850 , GRCh37.p13 chr1: 207,292,362-207,293,195 C4BPA
    nsv5446038copy number variation1nstd206human GRCh38 chr1: 207,123,354-207,123,406 , GRCh37.p13 chr1: 207,296,699-207,296,751 C4BPA
    nsv5384460copy number variation1nstd186human GRCh37 chr1: 207,292,362-207,293,193 , GRCh38.p12 chr1: 207,119,017-207,119,848 C4BPA
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5327491translocation1nstd204human GRCh38.p13 chr1: 207,119,851-207,119,851 , GRCh38.p13 chr1: 207,119,002-207,119,002 , GRCh37.p13 chr1: 207,293,196-207,293,196 , GRCh37.p13 chr1: 207,292,347-207,292,347 C4BPA
    nsv5293332copy number variation1nstd204human GRCh38.p13 chr1: 207,119,016-207,119,850 , GRCh37.p13 chr1: 207,292,361-207,293,195 C4BPA
    nsv5218338copy number variation1nstd204human GRCh38.p13 chr1: 207,119,101-207,119,800 , GRCh37.p13 chr1: 207,292,446-207,293,145 C4BPA
    nsv5217352copy number variation1nstd204human GRCh38.p13 chr1: 207,118,867-207,120,066 , GRCh37.p13 chr1: 207,292,212-207,293,411 C4BPA
    nsv5074716mobile element insertion1nstd203human GRCh38 chr1: 207,139,892-207,139,907 , GRCh37.p13 chr1: 207,313,237-207,313,252 C4BPA, LOC107985251
    nsv4898384copy number variation1nstd200human GRCh38 chr1: 207,136,899-207,146,879 , GRCh37.p13 chr1: 207,310,244-207,320,224 C4BPA, LOC107985251
    nsv4898383copy number variation1nstd200human GRCh38 chr1: 207,112,205-207,112,389 , GRCh37.p13 chr1: 207,285,550-207,285,734 C4BPA
    nsv4774147copy number variation1nstd200human GRCh37 chr1: 207,310,244-207,320,225 , GRCh38.p12 chr1: 207,136,899-207,146,880 LOC107985251, C4BPA
    nsv4774146copy number variation1nstd200human GRCh37 chr1: 207,292,306-207,293,255 , GRCh38.p12 chr1: 207,118,961-207,119,910 C4BPA
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4738189copy number variation1nstd199human GRCh37 chr1: 207,316,229-207,316,551 , GRCh38.p12 chr1: 207,142,884-207,143,206 C4BPA, LOC107985251
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