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Items: 1 to 20 of 462

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148184copy number variation1nstd102humanPathogenic GRCh38 chr1: 243,221,458-248,919,110 , GRCh37.p13 chr1: 243,384,760-249,213,309 LOC105373271, LOC107985725, 153 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7099272copy number variation1nstd231human GRCh38.p12 chr1: 243,197,153-248,437,482 , GRCh37 chr1: 243,360,455-248,600,783 ADSS2, HNRNPU, 124 more genes
    nsv7098854copy number variation1nstd102humanPathogenic GRCh37 chr1: 245,704,069-249,212,562 , GRCh38.p12 chr1: 245,540,767-248,918,363 OR2X1P, OR14A2, 118 more genes
    nsv7056583inversion1nstd229human GRCh38 chr1: 246,537,921-247,250,729 , GRCh37.p13 chr1: 246,701,223-247,414,031 ZNF695, LOC100131465, 26 more genes
    nsv7052367inversion1nstd229human GRCh38 chr1: 246,578,540-247,400,101 , GRCh37.p13 chr1: 246,741,842-247,563,403 LOC105373271, KIF28P, 30 more genes
    nsv7051894inversion1nstd229human GRCh38 chr1: 245,875,322-247,636,891 , GRCh37.p13 chr1: 246,038,624-247,800,193 NLRP3, LOC105373273, 46 more genes
    nsv7046282inversion1nstd229human GRCh38 chr1: 246,444,176-247,276,690 , GRCh37.p13 chr1: 246,607,478-247,439,992 LOC100420880, FLJ39095, 30 more genes
    nsv7043050inversion1nstd229human GRCh38 chr1: 246,982,942-247,630,602 , GRCh37.p13 chr1: 247,146,244-247,793,904 LOC100419806, GCSAML-AS1, 30 more genes
    nsv7042498inversion1nstd229human GRCh38 chr1: 246,214,057-247,061,029 , GRCh37.p13 chr1: 246,377,359-247,224,331 RPL35AP6, CNST, 16 more genes
    nsv6676075copy number variation1nstd229human GRCh38 chr1: 246,919,501-246,970,900 , GRCh37.p13 chr1: 247,082,803-247,134,202 ZNF695, ZNF670-ZNF695, 1 more genes
    nsv6676055copy number variation1nstd229human GRCh38 chr1: 246,942,624-246,947,573 , GRCh37.p13 chr1: 247,105,926-247,110,875 ZNF695, ZNF670-ZNF695
    nsv6675914copy number variation1nstd229human GRCh38 chr1: 247,006,597-247,145,996 , GRCh37.p13 chr1: 247,169,899-247,309,298 ZNF669, LOC100419806, 8 more genes
    nsv6675819copy number variation1nstd229human GRCh38 chr1: 246,991,426-247,124,817 , GRCh37.p13 chr1: 247,154,728-247,288,119 ZNF669, LOC100419806, 8 more genes
    nsv6675410copy number variation1nstd229human GRCh38 chr1: 247,005,995-247,011,401 , GRCh37.p13 chr1: 247,169,297-247,174,703 ZNF695, ZNF670-ZNF695
    nsv6674755copy number variation1nstd229human GRCh38 chr1: 246,989,158-247,043,003 , GRCh37.p13 chr1: 247,152,460-247,206,305 LOC100419806, ZNF670-ZNF695, 3 more genes
    nsv6673082copy number variation1nstd229human GRCh38 chr1: 246,994,072-246,997,722 , GRCh37.p13 chr1: 247,157,374-247,161,024 ZNF670-ZNF695, ZNF695
    nsv6670194copy number variation1nstd229human GRCh38 chr1: 246,972,149-246,986,362 , GRCh37.p13 chr1: 247,135,451-247,149,664 ZNF695, ZNF670-ZNF695
    nsv6669933copy number variation1nstd229human GRCh38 chr1: 246,983,001-247,087,400 , GRCh37.p13 chr1: 247,146,303-247,250,702 LOC100419806, ZNF670-ZNF695, 3 more genes
    nsv6669562copy number variation1nstd229human GRCh38 chr1: 246,986,678-246,987,503 , GRCh37.p13 chr1: 247,149,980-247,150,805 ZNF695, ZNF670-ZNF695
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