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Items: 1 to 20 of 290

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5960328insertion1nstd209human GRCh38 chr1: 94,475,767-94,475,767 , GRCh37.p13 chr1: 94,941,323-94,941,323 ABCD3
    nsv5880817copy number variation1nstd209human GRCh38 chr1: 94,477,677-94,477,758 , GRCh37.p13 chr1: 94,943,233-94,943,314 ABCD3
    nsv5718963mobile element insertion1nstd211human GRCh38 chr1: 94,426,121-94,426,121 , GRCh37.p13 chr1: 94,891,677-94,891,677 ABCD3
    nsv5688391mobile element insertion2nstd211human GRCh38 chr1: 94,483,643-94,483,643 , GRCh37.p13 chr1: 94,949,199-94,949,199 ABCD3
    nsv5673257copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,458,793-95,538,454 , GRCh38.p12 chr1: 93,993,237-95,072,898 ABCD3, KATNBL1P2, 19 more genes
    nsv5576452copy number variation1nstd207human GRCh38 chr1: 94,477,681-94,477,762 , GRCh37.p13 chr1: 94,943,237-94,943,318 ABCD3
    nsv5562054mobile element insertion1nstd206human GRCh38 chr1: 94,426,121-94,426,172 , GRCh37.p13 chr1: 94,891,677-94,891,728 ABCD3
    nsv5551640insertion1nstd206human GRCh38 chr1: 94,483,643-94,483,645 , GRCh37.p13 chr1: 94,949,199-94,949,201 ABCD3
    nsv5428916copy number variation1nstd206human GRCh38 chr1: 94,477,677-94,477,767 , GRCh37.p13 chr1: 94,943,233-94,943,323 ABCD3
    nsv5423229copy number variation1nstd206human GRCh38 chr1: 94,499,136-94,499,233 , GRCh37.p13 chr1: 94,964,692-94,964,789 ABCD3
    nsv5353597translocation1nstd200human GRCh38 chr1: 94,513,763-94,513,763 , GRCh38 chr3: 165,918,820-165,918,820 , GRCh37.p13 chr1: 94,979,319-94,979,319 , GRCh37.p13 chr3: 165,636,608-165,636,608 ABCD3
    nsv5353596translocation1nstd200human GRCh38 chr1: 94,477,767-94,477,767 , GRCh38 chr1: 94,477,677-94,477,677 , GRCh37.p13 chr1: 94,943,323-94,943,323 , GRCh37.p13 chr1: 94,943,233-94,943,233 ABCD3
    nsv5338914translocation1nstd200human GRCh37 chr1: 94,943,233-94,943,233 , GRCh37 chr1: 94,943,323-94,943,323 , GRCh38.p12 chr1: 94,477,767-94,477,767 , GRCh38.p12 chr1: 94,477,677-94,477,677 ABCD3
    nsv5329211translocation1nstd204human GRCh38.p13 chr1: 94,477,767-94,477,767 , GRCh38.p13 chr1: 94,477,677-94,477,677 , GRCh37.p13 chr1: 94,943,323-94,943,323 , GRCh37.p13 chr1: 94,943,233-94,943,233 ABCD3
    nsv5075768mobile element insertion1nstd203human GRCh38 chr1: 94,468,148-94,468,165 , GRCh37.p13 chr1: 94,933,704-94,933,721 ABCD3
    nsv5072583mobile element insertion1nstd203human GRCh38 chr1: 94,456,618-94,456,634 , GRCh37.p13 chr1: 94,922,174-94,922,190 ABCD3
    nsv5060145mobile element insertion1nstd203human GRCh38 chr1: 94,442,934-94,442,944 , GRCh37.p13 chr1: 94,908,490-94,908,500 ABCD3
    nsv4897039copy number variation1nstd200human GRCh38 chr1: 94,484,987-94,485,810 , GRCh37.p13 chr1: 94,950,543-94,951,366 ABCD3
    nsv4788699copy number variation1nstd200human GRCh37 chr1: 94,969,997-94,970,099 , GRCh38.p12 chr1: 94,504,441-94,504,543 ABCD3
    nsv4788698copy number variation1nstd200human GRCh37 chr1: 94,950,543-94,951,366 , GRCh38.p12 chr1: 94,484,987-94,485,810 ABCD3
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