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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6123711copy number variation1nstd186human GRCh37 chr19: 50,370,889-50,370,958 , GRCh38.p12 chr19: 49,867,632-49,867,701 AKT1S1, PNKP
    nsv5980409copy number variation1nstd102humanUncertain significance GRCh37 chr19: 50,364,504-50,370,461 , GRCh38.p12 chr19: 49,861,247-49,867,204 AKT1S1, PNKP
    nsv5974464inversion1nstd209human GRCh38 chr19: 49,769,209-52,432,690 , GRCh37.p13 chr19: 50,272,466-52,935,943 , AP2A1, 172 more genes
    nsv5939811copy number variation1nstd209human GRCh38 chr19: 49,867,632-49,867,700 , GRCh37.p13 chr19: 50,370,889-50,370,957 PNKP, AKT1S1
    nsv5930207copy number variation1nstd209human GRCh38 chr19: 49,875,293-49,875,364 , GRCh37.p13 chr19: 50,378,550-50,378,621 AKT1S1
    nsv5667352inversion1nstd207human GRCh38 chr19: 47,959,661-50,091,195 , GRCh37.p13 chr19: 48,462,918-50,594,452 , AP2A1, 145 more genes
    nsv5662688insertion1nstd207human GRCh38 chr19: 49,867,632-49,867,632 , GRCh37.p13 chr19: 50,370,889-50,370,889 AKT1S1, PNKP
    nsv5588213copy number variation1nstd207human GRCh38 chr19: 49,875,293-49,875,364 , GRCh37.p13 chr19: 50,378,550-50,378,621 AKT1S1
    nsv5531646copy number variation1nstd206human GRCh38 chr19: 49,876,074-49,878,662 , GRCh37.p13 chr19: 50,379,331-50,381,919 TBC1D17, AKT1S1
    nsv5522096copy number variation1nstd206human GRCh38 chr19: 49,870,877-49,870,933 , GRCh37.p13 chr19: 50,374,134-50,374,190 AKT1S1
    nsv5521703copy number variation1nstd206human GRCh38 chr19: 49,867,632-49,867,701 , GRCh37.p13 chr19: 50,370,889-50,370,958 AKT1S1, PNKP
    nsv5516385copy number variation1nstd206human GRCh38 chr19: 49,863,321-50,035,426 , GRCh37.p13 chr19: 50,366,578-50,538,683 IL4I1, SIGLEC11, 10 more genes
    nsv5292878copy number variation1nstd204human GRCh38.p13 chr19: 49,878,520-49,881,643 , GRCh37.p13 chr19: 50,381,777-50,384,900 AKT1S1, TBC1D17
    nsv5173503mobile element insertion1nstd203human GRCh38 chr19: 49,869,640-49,869,655 , GRCh37.p13 chr19: 50,372,897-50,372,912 AKT1S1
    nsv5024817copy number variation1nstd200human GRCh38 chr19: 49,856,044-49,921,115 , GRCh37.p13 chr19: 50,359,301-50,424,372 IL4I1, AKT1S1, 6 more genes
    nsv5021010copy number variation1nstd200human GRCh38 chr19: 49,863,737-49,867,106 , GRCh37.p13 chr19: 50,366,994-50,370,363 PNKP, AKT1S1
    nsv4751239insertion1nstd199human GRCh37 chr19: 50,370,894-50,370,894 , GRCh38.p12 chr19: 49,867,637-49,867,637 PNKP, AKT1S1
    nsv4731958copy number variation1nstd199human GRCh37 chr19: 50,378,582-50,378,654 , GRCh38.p12 chr19: 49,875,325-49,875,397 AKT1S1
    nsv4729755copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,463,931-57,095,254 , GRCh38.p12 chr19: 47,960,674-56,583,886 SIGLEC5, MED25, 574 more genes
    nsv4718622insertion1nstd186human GRCh37 chr19: 50,370,851-50,370,851 , GRCh38.p12 chr19: 49,867,594-49,867,594 AKT1S1, PNKP
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