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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7048316inversion1nstd229human GRCh38 chr2: 217,690,925-222,070,373 , GRCh37.p13 chr2: 218,555,648-222,935,092 LOC105373895, CXCR2P1, 119 more genes
    nsv6683898copy number variation1nstd229human GRCh38 chr2: 219,153,721-219,159,659 , GRCh37.p13 chr2: 220,018,443-220,024,381 NHEJ1, SLC23A3
    nsv6680916copy number variation1nstd229human GRCh38 chr2: 219,149,530-219,180,787 , GRCh37.p13 chr2: 220,014,252-220,045,509 RETREG2, NHEJ1, 2 more genes
    nsv6680261copy number variation1nstd229human GRCh38 chr2: 218,980,115-219,202,325 , GRCh37.p13 chr2: 219,844,837-220,067,047 IHH, FEV, 11 more genes
    nsv6346585copy number variation1nstd223human GRCh38 chr2: 219,120,801-219,643,000 , GRCh37.p13 chr2: 219,985,523-220,507,722 OBSL1, DNAJB2, 32 more genes
    nsv6343381copy number variation1nstd223human GRCh38 chr2: 219,100,201-219,804,900 , GRCh37.p13 chr2: 219,964,923-220,669,621 CHPF, TMEM198, 38 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313768copy number variation1nstd102humanUncertain significance GRCh37 chr2: 218,210,665-220,141,650 , GRCh38.p12 chr2: 217,345,942-219,276,928 PNKD, RNU6-136P, 73 more genes
    nsv6313686copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,108,009-221,679,980 , GRCh38.p12 chr2: 214,243,285-220,815,260 BCS1L, LOC105373880, 160 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    nsv6311374copy number variation2nstd102humanUncertain significance GRCh37 chr2: 218,999,525-220,435,954 , GRCh38.p12 chr2: 218,134,802-219,571,232 CHPF, WNT6, 83 more genes
    nsv6299248copy number variation1nstd186human GRCh37 chr2: 220,024,257-220,024,311 , GRCh38.p12 chr2: 219,159,535-219,159,589 NHEJ1, SLC23A3
    nsv6261837copy number variation1nstd214human GRCh38 chr2: 219,159,526-219,159,589 , GRCh37.p13 chr2: 220,024,248-220,024,311 NHEJ1, SLC23A3
    nsv6261836copy number variation1nstd214human GRCh38 chr2: 219,159,514-219,159,563 , GRCh37.p13 chr2: 220,024,236-220,024,285 SLC23A3, NHEJ1
    nsv6261680copy number variation1nstd214human GRCh38 chr2: 219,159,518-219,159,575 , GRCh37.p13 chr2: 220,024,240-220,024,297 SLC23A3, NHEJ1
    nsv6261606copy number variation1nstd214human GRCh38 chr2: 219,159,514-219,159,575 , GRCh37.p13 chr2: 220,024,236-220,024,297 SLC23A3, NHEJ1
    nsv6261605copy number variation1nstd214human GRCh38 chr2: 219,159,513-219,159,588 , GRCh37.p13 chr2: 220,024,235-220,024,310 NHEJ1, SLC23A3
    nsv6157179copy number variation1nstd214human GRCh38 chr2: 219,159,520-219,159,575 , GRCh37.p13 chr2: 220,024,242-220,024,297 SLC23A3, NHEJ1
    nsv6043862insertion1nstd212human GRCh38 chr2: 219,159,552-219,159,552 , GRCh37.p13 chr2: 220,024,274-220,024,274 SLC23A3, NHEJ1
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