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Items: 1 to 20 of 123

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5676793mobile element insertion1nstd211human GRCh38 chr1: 35,185,121-35,185,121 , GRCh37.p13 chr1: 35,650,722-35,650,722 SFPQ
    nsv5423186copy number variation1nstd206human GRCh38 chr1: 35,185,661-35,185,801 , GRCh37.p13 chr1: 35,651,262-35,651,402 SFPQ
    nsv5407532mobile element insertion1nstd206human GRCh38 chr1: 35,185,121-35,185,172 , GRCh37.p13 chr1: 35,650,722-35,650,773 SFPQ
    nsv5366692translocation1nstd200human GRCh38 chr1: 35,189,680-35,189,680 , GRCh38 chr1: 35,169,239-35,169,239 , GRCh37.p13 chr1: 35,634,840-35,634,840 , GRCh37.p13 chr1: 35,655,281-35,655,281 SFPQ
    nsv5329953translocation1nstd200human GRCh37 chr1: 35,634,840-35,634,840 , GRCh37 chr1: 35,655,281-35,655,281 , GRCh38.p12 chr1: 35,169,239-35,169,239 , GRCh38.p12 chr1: 35,189,680-35,189,680 SFPQ
    nsv5070635mobile element insertion1nstd203human GRCh38 chr1: 35,185,110-35,185,121 , GRCh37.p13 chr1: 35,650,711-35,650,722 SFPQ
    nsv4903347copy number variation1nstd200human GRCh38 chr1: 35,192,602-35,234,980 , GRCh37.p13 chr1: 35,658,203-35,700,581 SFPQ
    nsv4780773copy number variation1nstd200human GRCh37 chr1: 35,658,203-35,700,581 , GRCh38.p12 chr1: 35,192,602-35,234,980 SFPQ
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4578482copy number variation1nstd102humanUncertain significance GRCh37 chr1: 35,321,300-35,944,813 , GRCh38.p12 chr1: 34,855,699-35,479,212 LOC105378644, ZMYM4, 14 more genes
    nsv4460838mobile element insertion1nstd166human GRCh37.p13 chr1: 35,650,711-35,650,711 , GRCh38.p12 chr1: 35,185,110-35,185,110 SFPQ
    nsv4450314copy number variation1nstd102humanUncertain significance GRCh37 chr1: 34,915,050-36,163,162 , GRCh38.p12 chr1: 34,449,449-35,697,561 LOC105378644, RNY5P1, 27 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 LOC100419802, RPL5P4, 75 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4051072copy number variation1nstd166human GRCh37.p13 chr1: 35,656,194-35,656,294 , GRCh38.p12 chr1: 35,190,593-35,190,693 SFPQ
    nsv4050183copy number variation1nstd166human GRCh37.p13 chr1: 35,654,000-35,661,000 , GRCh38.p12 chr1: 35,188,399-35,195,399 SFPQ
    nsv4047877copy number variation1nstd166human GRCh37.p13 chr1: 35,643,243-35,643,326 , GRCh38.p12 chr1: 35,177,642-35,177,725 SFPQ
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