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Items: 1 to 20 of 357

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5874327copy number variation1nstd209human GRCh38 chr1: 43,228,390-43,229,871 , GRCh37.p13 chr1: 43,694,061-43,695,542 CFAP57, LOC105378685
    nsv5829724copy number variation1nstd209human GRCh38 chr1: 43,228,392-43,229,891 , GRCh37.p13 chr1: 43,694,063-43,695,562 CFAP57, LOC105378685
    nsv5693720mobile element insertion1nstd211human GRCh38 chr1: 43,236,617-43,236,617 , GRCh37.p13 chr1: 43,702,288-43,702,288 CFAP57, LOC105378685
    nsv5692083mobile element insertion2nstd211human GRCh38 chr1: 43,220,236-43,220,236 , GRCh37.p13 chr1: 43,685,907-43,685,907 LOC105378685, CFAP57
    nsv5673174copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,392,692-43,870,241 , GRCh38.p12 chr1: 42,927,021-43,404,570 TMEM125, RNA5SP46, 19 more genes
    nsv5570955copy number variation1nstd207human GRCh38 chr1: 43,228,390-43,229,871 , GRCh37.p13 chr1: 43,694,061-43,695,542 CFAP57, LOC105378685
    nsv5561424sequence alteration1nstd206human GRCh38 chr1: 43,176,998-43,185,765 , GRCh37.p13 chr1: 43,642,669-43,651,436 CFAP57, LOC105378685
    nsv5431340copy number variation1nstd206human GRCh38 chr1: 43,175,835-43,185,835 , GRCh37.p13 chr1: 43,641,506-43,651,506 CFAP57, LOC105378685
    nsv5424552copy number variation1nstd206human GRCh38 chr1: 43,228,392-43,229,872 , GRCh37.p13 chr1: 43,694,063-43,695,543 CFAP57, LOC105378685
    nsv5424441copy number variation1nstd206human GRCh38 chr1: 43,247,807-43,248,537 , GRCh37.p13 chr1: 43,713,478-43,714,208 LOC105378685, CFAP57
    nsv5408542mobile element insertion1nstd206human GRCh38 chr1: 43,220,236-43,220,287 , GRCh37.p13 chr1: 43,685,907-43,685,958 LOC105378685, CFAP57
    nsv5285906copy number variation1nstd204human GRCh37.p13 chr1: 43,694,063-43,695,543 , GRCh38.p13 chr1: 43,228,392-43,229,872 CFAP57, LOC105378685
    nsv5218027copy number variation1nstd204human GRCh38.p13 chr1: 43,228,392-43,229,891 , GRCh37.p13 chr1: 43,694,063-43,695,562 LOC105378685, CFAP57
    nsv5214269copy number variation1nstd204human GRCh38.p13 chr1: 43,226,901-43,229,900 , GRCh37.p13 chr1: 43,692,572-43,695,571 CFAP57, LOC105378685
    nsv5207906copy number variation1nstd204human GRCh38.p13 chr1: 43,229,101-43,229,800 , GRCh37.p13 chr1: 43,694,772-43,695,471 LOC105378685, CFAP57
    nsv5072474mobile element insertion1nstd203human GRCh38 chr1: 43,249,048-43,249,067 , GRCh37.p13 chr1: 43,714,719-43,714,738 LOC105378685, CFAP57
    nsv5070563mobile element insertion1nstd203human GRCh38 chr1: 43,185,678-43,185,697 , GRCh37.p13 chr1: 43,651,349-43,651,368 CFAP57, LOC105378685
    nsv4906190copy number variation1nstd200human GRCh38 chr1: 43,228,392-43,229,872 , GRCh37.p13 chr1: 43,694,063-43,695,543 LOC105378685, CFAP57
    nsv4903410copy number variation1nstd200human GRCh38 chr1: 43,244,622-43,245,076 , GRCh37.p13 chr1: 43,710,293-43,710,747 LOC105378685, CFAP57
    nsv4780804copy number variation1nstd200human GRCh37 chr1: 43,710,293-43,710,747 , GRCh38.p12 chr1: 43,244,622-43,245,076 LOC105378685, CFAP57
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