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Items: 1 to 20 of 891

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6128292copy number variation1nstd186human GRCh37 chr22: 50,781,794-50,783,794 , GRCh38.p12 chr22: 50,343,365-50,345,365 PPP6R2
    nsv6126232copy number variation1nstd186human GRCh37 chr22: 50,872,593-50,872,842 , GRCh38.p12 chr22: 50,434,164-50,434,413 , PPP6R2
    nsv6112794copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,099,570-51,187,115 , GRCh38.p12 chr22: 49,705,922-50,748,687 SCO2, CIMAP1B, 50 more genes
    nsv5974702inversion1nstd209human GRCh38 chr22: 50,173,095-50,396,313 , GRCh37.p13 chr22: 50,611,524-50,834,742 MAPK11, MAPK12, 11 more genes
    nsv5973156insertion1nstd209human GRCh38 chr22: 50,351,292-50,351,292 , GRCh37.p13 chr22: 50,789,721-50,789,721 PPP6R2
    nsv5972757insertion1nstd209human GRCh38 chr22: 50,375,832-50,375,832 , GRCh37.p13 chr22: 50,814,261-50,814,261 PPP6R2
    nsv5966858copy number variation1nstd209human GRCh38 chr22: 50,346,315-50,346,498 , GRCh37.p13 chr22: 50,784,744-50,784,927 PPP6R2
    nsv5966479copy number variation1nstd209human GRCh38 chr22: 50,370,344-50,371,695 , GRCh37.p13 chr22: 50,808,773-50,810,124 PPP6R2, RN7SL500P
    nsv5965037copy number variation1nstd209human GRCh38 chr22: 50,424,325-50,424,457 , GRCh37.p13 chr22: 50,862,754-50,862,886 PPP6R2
    nsv5961059copy number variation1nstd209human GRCh38 chr22: 50,343,793-50,346,300 , GRCh37.p13 chr22: 50,782,222-50,784,729 PPP6R2
    nsv5958831copy number variation1nstd209human GRCh38 chr22: 50,368,680-50,373,571 , GRCh37.p13 chr22: 50,807,109-50,812,000 RN7SL500P, PPP6R2
    nsv5957085copy number variation1nstd209human GRCh38 chr22: 50,370,673-50,371,678 , GRCh37.p13 chr22: 50,809,102-50,810,107 PPP6R2, RN7SL500P
    nsv5955726copy number variation1nstd209human GRCh38 chr22: 50,346,327-50,346,398 , GRCh37.p13 chr22: 50,784,756-50,784,827 PPP6R2
    nsv5950754copy number variation1nstd209human GRCh38 chr22: 50,428,000-50,428,134 , GRCh37.p13 chr22: 50,866,429-50,866,563 PPP6R2
    nsv5948940copy number variation1nstd209human GRCh38 chr22: 50,439,659-50,441,965 , GRCh37.p13 chr22: 50,878,088-50,880,394 PPP6R2
    nsv5948815copy number variation1nstd209human GRCh38 chr22: 50,399,809-50,399,861 , GRCh37.p13 chr22: 50,838,238-50,838,290 PPP6R2
    nsv5947895copy number variation1nstd209human GRCh38 chr22: 50,397,540-50,397,965 , GRCh37.p13 chr22: 50,835,969-50,836,394 PPP6R2
    nsv5885490copy number variation1nstd209human GRCh38 chr22: 50,439,507-50,442,006 , GRCh37.p13 chr22: 50,877,936-50,880,435 PPP6R2
    nsv5884787copy number variation2nstd209human GRCh38 chr22: 50,361,118-50,363,617 , GRCh37.p13 chr22: 50,799,547-50,802,046 PPP6R2
    nsv5880737copy number variation1nstd209human GRCh38 chr22: 50,369,308-50,371,011 , GRCh37.p13 chr22: 50,807,737-50,809,440 PPP6R2, RN7SL500P
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