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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148189copy number variation1nstd102humanPathogenic GRCh38 chr2: 219,420,345-219,431,647 , GRCh37.p13 chr2: 220,285,067-220,296,369 DES
    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
    nsv7098954copy number variation1nstd102humanUncertain significance GRCh38 chr2: 219,420,207-219,462,705 , GRCh37.p13 chr2: 220,284,929-220,327,427 DES, SPEG
    nsv7096610copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,283,185-220,290,712 , GRCh38.p12 chr2: 219,418,463-219,425,990 DES
    nsv7096137copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 220,284,797-220,284,897 , GRCh38.p12 chr2: 219,420,075-219,420,175 DES
    nsv7057191inversion1nstd229human GRCh38 chr2: 219,392,741-219,619,982 , GRCh37.p13 chr2: 220,257,463-220,484,704 RN7SKP213, GMPPA, 13 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
    nsv7044013inversion1nstd229human GRCh38 chr2: 219,400,088-219,619,765 , GRCh37.p13 chr2: 220,264,810-220,484,487 TMEM198, RN7SKP213, 13 more genes
    nsv6685407copy number variation1nstd229human GRCh38 chr2: 219,421,561-219,425,660 , GRCh37.p13 chr2: 220,286,283-220,290,382 DES
    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
    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
    nsv6311485copy number variation1nstd102humanUncertain significance GRCh37 chr2: 220,288,441-220,288,541 , GRCh38.p12 chr2: 219,423,719-219,423,819 DES
    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
    nsv6134651copy number variation1nstd213human GRCh37 chr2: 220,280,000-220,570,001 , GRCh38.p12 chr2: 219,415,278-219,705,279 DES, INHA, 14 more genes
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5692971mobile element insertion1nstd211human GRCh38 chr2: 219,416,901-219,416,901 , GRCh37.p13 chr2: 220,281,623-220,281,623 DES
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
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