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Items: 1 to 20 of 216

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7067501inversion1nstd229human GRCh38 chr12: 46,800,606-46,800,663 , GRCh37.p13 chr12: 47,194,389-47,194,446 SLC38A4
    nsv6938005copy number variation1nstd229human GRCh38 chr12: 46,831,860-46,831,935 , GRCh37.p13 chr12: 47,225,643-47,225,718 SLC38A4
    nsv6932087copy number variation1nstd229human GRCh38 chr12: 46,822,342-46,825,821 , GRCh37.p13 chr12: 47,216,125-47,219,604 SLC38A4
    nsv6921087copy number variation1nstd229human GRCh38 chr12: 46,763,357-46,810,024 , GRCh37.p13 chr12: 47,157,140-47,203,807 SLC38A4
    nsv6918169copy number variation1nstd229human GRCh38 chr12: 46,741,501-47,141,800 , GRCh37.p13 chr12: 47,135,284-47,535,583 PCED1B, IFITM3P6, 3 more genes
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 ZNF641, MIR4698, 77 more genes
    nsv6576499inversion1nstd223human GRCh38 chr12: 46,820,113-46,821,309 , GRCh37.p13 chr12: 47,213,896-47,215,092 SLC38A4
    nsv6475312copy number variation1nstd223human GRCh38 chr12: 46,799,919-46,800,929 , GRCh37.p13 chr12: 47,193,702-47,194,712 SLC38A4
    nsv6473714copy number variation1nstd223human GRCh38 chr12: 46,783,703-46,785,377 , GRCh37.p13 chr12: 47,177,486-47,179,160 SLC38A4
    nsv6472341copy number variation1nstd223human GRCh38 chr12: 46,806,801-46,808,000 , GRCh37.p13 chr12: 47,200,584-47,201,783 SLC38A4
    nsv6469495copy number variation1nstd223human GRCh38 chr12: 46,801,801-46,803,300 , GRCh37.p13 chr12: 47,195,584-47,197,083 SLC38A4
    nsv6467151copy number variation1nstd223human GRCh38 chr12: 46,818,100-46,818,546 , GRCh37.p13 chr12: 47,211,883-47,212,329 SLC38A4
    nsv6463919copy number variation1nstd223human GRCh38 chr12: 46,795,306-46,795,617 , GRCh37.p13 chr12: 47,189,089-47,189,400 SLC38A4
    nsv6462842copy number variation1nstd223human GRCh38 chr12: 46,776,527-46,777,067 , GRCh37.p13 chr12: 47,170,310-47,170,850 SLC38A4
    nsv6461237copy number variation1nstd223human GRCh38 chr12: 46,822,203-46,822,874 , GRCh37.p13 chr12: 47,215,986-47,216,657 SLC38A4
    nsv6288587insertion1nstd214human GRCh38 chr12: 46,831,860-46,831,860 , GRCh37.p13 chr12: 47,225,643-47,225,643 SLC38A4
    nsv6240994mobile element insertion1nstd215human GRCh38 chr12: 46,827,621-46,827,621 , GRCh37.p13 chr12: 47,221,404-47,221,404 SLC38A4
    nsv6198841copy number variation1nstd214human GRCh38 chr12: 46,825,204-46,825,300 , GRCh37.p13 chr12: 47,218,987-47,219,083 SLC38A4
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv6027993copy number variation1nstd212human GRCh38 chr12: 46,825,182-46,825,301 , GRCh37.p13 chr12: 47,218,965-47,219,084 SLC38A4
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