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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5886746copy number variation1nstd209human GRCh38 chr1: 226,568,956-226,569,007 , GRCh37.p13 chr1: 226,756,657-226,756,708 STUM
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5729646mobile element insertion2nstd211human GRCh38 chr1: 226,583,218-226,583,218 , GRCh37.p13 chr1: 226,770,919-226,770,919 STUM
    nsv5536505insertion1nstd206human GRCh38 chr1: 226,569,004-226,569,016 , GRCh37.p13 chr1: 226,756,705-226,756,717 STUM
    nsv5436828copy number variation1nstd206human GRCh38 chr1: 226,557,606-226,558,273 , GRCh37.p13 chr1: 226,745,307-226,745,974 STUM
    nsv5436004copy number variation1nstd206human GRCh38 chr1: 226,568,024-226,568,470 , GRCh37.p13 chr1: 226,755,725-226,756,171 STUM
    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
    nsv5374038translocation1nstd200human GRCh38 chr1: 226,608,628-226,608,628 , GRCh38 chr1: 226,594,233-226,594,233 , GRCh37.p13 chr1: 226,781,934-226,781,934 , GRCh37.p13 chr1: 226,796,329-226,796,329 STUM
    nsv5374037translocation1nstd200human GRCh38 chr1: 226,593,974-226,593,974 , GRCh38 chr1: 226,598,181-226,598,181 , GRCh37.p13 chr1: 226,781,675-226,781,675 , GRCh37.p13 chr1: 226,785,882-226,785,882 STUM
    nsv5174605mobile element insertion1nstd203human GRCh38 chr1: 226,583,206-226,583,218 , GRCh37.p13 chr1: 226,770,907-226,770,919 STUM
    nsv5075254mobile element insertion1nstd203human GRCh38 chr1: 226,566,396-226,566,404 , GRCh37.p13 chr1: 226,754,097-226,754,105 STUM
    nsv5067875mobile element insertion1nstd203human GRCh38 chr1: 226,601,129-226,601,144 , GRCh37.p13 chr1: 226,788,830-226,788,845 STUM
    nsv4899070copy number variation1nstd200human GRCh38 chr1: 226,587,622-226,588,301 , GRCh37.p13 chr1: 226,775,323-226,776,002 STUM
    nsv4899069copy number variation1nstd200human GRCh38 chr1: 226,571,821-226,575,891 , GRCh37.p13 chr1: 226,759,522-226,763,592 STUM
    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
    nsv4721615insertion1nstd186human GRCh37 chr1: 226,756,657-226,756,657 , GRCh38.p12 chr1: 226,568,956-226,568,956 STUM
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674157copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,641,389-228,137,574 , GRCh38.p12 chr1: 222,468,047-227,949,873 SRP9, AKR1B1P1, 123 more genes
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