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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5938835copy number variation1nstd209human GRCh38 chr14: 50,842,894-59,394,609 , GRCh37.p13 chr14: 51,309,612-59,861,327 , TMX1, 148 more genes
    nsv5700308mobile element insertion1nstd211human GRCh38 chr14: 57,400,732-57,400,732 , GRCh37.p13 chr14: 57,867,450-57,867,450 NAA30
    nsv5511999copy number variation1nstd206human GRCh38 chr14: 57,401,522-57,401,924 , GRCh37.p13 chr14: 57,868,240-57,868,642 NAA30
    nsv5415322mobile element insertion1nstd206human GRCh38 chr14: 57,400,732-57,400,783 , GRCh37.p13 chr14: 57,867,450-57,867,501 NAA30
    nsv5150414mobile element insertion1nstd203human GRCh38 chr14: 57,397,376-57,397,388 , GRCh37.p13 chr14: 57,864,094-57,864,106 NAA30
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4999458copy number variation1nstd200human GRCh38 chr14: 57,399,010-57,399,122 , GRCh37.p13 chr14: 57,865,728-57,865,840 NAA30
    nsv4845447copy number variation1nstd200human GRCh37 chr14: 57,868,240-57,868,642 , GRCh38.p12 chr14: 57,401,522-57,401,924 NAA30
    nsv4844062copy number variation1nstd200human GRCh37 chr14: 57,865,728-57,865,838 , GRCh38.p12 chr14: 57,399,010-57,399,120 NAA30
    nsv4675883copy number variation1nstd102humanPathogenic GRCh37 chr14: 55,615,073-58,043,694 , GRCh38.p12 chr14: 55,148,355-57,576,976 FBXO34-AS1, FBXO34, 39 more genes
    nsv4674918copy number variation1nstd102humanPathogenic GRCh37 chr14: 56,605,398-59,404,256 , GRCh38.p12 chr14: 56,138,680-58,937,538 RNU6-1204P, LOC440180, 42 more genes
    nsv4672793copy number variation1nstd186human GRCh37 chr14: 57,868,237-57,868,642 , GRCh38.p12 chr14: 57,401,519-57,401,924 NAA30
    nsv4622326copy number variation1nstd183human GRCh37 chr14: 57,868,237-57,868,642 , GRCh38.p12 chr14: 57,401,519-57,401,924 NAA30
    nsv4504482mobile element insertion1nstd166human GRCh37.p13 chr14: 57,864,089-57,864,089 , GRCh38.p12 chr14: 57,397,371-57,397,371 NAA30
    nsv4229931copy number variation1nstd166human GRCh37.p13 chr14: 57,851,650-57,856,760 , GRCh38.p12 chr14: 57,384,932-57,390,042 NAA30
    nsv4224236copy number variation1nstd166human GRCh37.p13 chr14: 57,851,650-57,855,383 , GRCh38.p12 chr14: 57,384,932-57,388,665 NAA30
    nsv4212616copy number variation1nstd166human GRCh37.p13 chr14: 57,855,549-57,856,760 , GRCh38.p12 chr14: 57,388,831-57,390,042 NAA30
    nsv3922652copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,507,754-67,674,948 , NCBI36 chr14: 56,577,507-66,744,701 , GRCh38 chr14: 57,041,036-67,208,231 PARP1P2, SNAPC1, 160 more genes
    nsv3919106copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482 SRMP2, IGHV3-71, 1929 more genes
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