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Items: 1 to 20 of 292

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6123312copy number variation1nstd186human GRCh37 chr13: 50,078,644-50,078,695 , GRCh38.p12 chr13: 49,504,508-49,504,559 SETDB2-PHF11, PHF11
    nsv5941023copy number variation1nstd209human GRCh38 chr13: 49,504,481-49,504,558 , GRCh37.p13 chr13: 50,078,617-50,078,694 SETDB2-PHF11, PHF11
    nsv5597000copy number variation1nstd207human GRCh38 chr13: 49,504,481-49,504,558 , GRCh37.p13 chr13: 50,078,617-50,078,694 SETDB2-PHF11, PHF11
    nsv5587110copy number variation1nstd207human GRCh38 chr13: 49,498,386-49,498,455 , GRCh37.p13 chr13: 50,072,522-50,072,591 PHF11, SETDB2-PHF11
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5561330sequence alteration1nstd206human GRCh38 chr13: 44,983,377-49,709,767 , GRCh37.p13 chr13: 45,557,512-50,283,903 , ESD, 103 more genes
    nsv5507450copy number variation1nstd206human GRCh38 chr13: 49,513,403-49,513,454 , GRCh37.p13 chr13: 50,087,539-50,087,590 PHF11, SETDB2-PHF11
    nsv5505807copy number variation1nstd206human GRCh38 chr13: 49,504,508-49,504,559 , GRCh37.p13 chr13: 50,078,644-50,078,695 PHF11, SETDB2-PHF11
    nsv5307050copy number variation1nstd204human GRCh38.p13 chr13: 49,201,982-51,085,310 , GRCh37.p13 chr13: 49,776,118-51,659,446 , MLNR, 40 more genes
    nsv5275176copy number variation1nstd204human GRCh38.p13 chr13: 49,507,427-49,517,292 , GRCh37.p13 chr13: 50,081,563-50,091,428 SETDB2-PHF11, PHF11
    nsv5270098copy number variation1nstd204human GRCh38.p13 chr13: 49,522,092-49,548,701 , GRCh37.p13 chr13: 50,096,228-50,122,837 SETDB2-PHF11, PHF11, 1 more genes
    nsv5157589mobile element insertion1nstd203human GRCh38 chr13: 49,518,980-49,518,992 , GRCh37.p13 chr13: 50,093,116-50,093,128 PHF11, SETDB2-PHF11
    nsv4997204copy number variation1nstd200human GRCh38 chr13: 43,050,454-56,920,222 , GRCh37.p13 chr13: 43,624,590-57,494,356 , RNY3P2, 222 more genes
    nsv4845274copy number variation1nstd200human GRCh37 chr13: 49,776,128-51,659,444 , GRCh38.p12 chr13: 49,201,992-51,085,308 , PHF11, 40 more genes
    nsv4734997copy number variation1nstd199human GRCh37 chr13: 50,072,539-50,072,610 , GRCh38.p12 chr13: 49,498,403-49,498,474 PHF11, SETDB2-PHF11
    nsv4734116copy number variation1nstd199human GRCh37 chr13: 50,078,617-50,078,698 , GRCh38.p12 chr13: 49,504,481-49,504,562 PHF11, SETDB2-PHF11
    nsv4728809copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 45,487,628-52,639,336 , GRCh38.p12 chr13: 44,913,493-52,065,200 ATP7B, RCBTB2, 155 more genes
    nsv4675767copy number variation1nstd102humanUncertain significance GRCh37 chr13: 50,056,792-50,564,776 , GRCh38.p12 chr13: 49,482,656-49,990,640 LOC105370204, SETDB2-PHF11, 13 more genes
    nsv4565825mobile element insertion1nstd166human GRCh37.p13 chr13: 50,079,928-50,079,928 , GRCh38.p12 chr13: 49,505,792-49,505,792 PHF11, SETDB2-PHF11
    nsv4456820copy number variation1nstd102humanUncertain significance GRCh37 chr13: 49,586,017-61,311,845 , GRCh38.p12 chr13: 49,011,881-60,737,711 MIR759, CAB39L, 149 more genes
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