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Items: 1 to 20 of 136

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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
    nsv7096240copy number variation1nstd102humanUncertain significance GRCh37 chr2: 220,144,556-220,150,719 , GRCh38.p12 chr2: 219,279,834-219,285,997 DNAJB2
    nsv7048316inversion1nstd229human GRCh38 chr2: 217,690,925-222,070,373 , GRCh37.p13 chr2: 218,555,648-222,935,092 LOC105373895, CXCR2P1, 119 more genes
    nsv6698012copy number variation1nstd229human GRCh38 chr2: 219,284,101-219,287,000 , GRCh37.p13 chr2: 220,148,823-220,151,722 DNAJB2
    nsv6691735copy number variation1nstd229human GRCh38 chr2: 219,287,188-219,294,745 , GRCh37.p13 chr2: 220,151,910-220,159,467 PTPRN, MIR153-1, 1 more genes
    nsv6685529copy number variation1nstd229human GRCh38 chr2: 219,266,701-219,284,700 , GRCh37.p13 chr2: 220,131,423-220,149,422 DNAJB2, TUBA4B
    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
    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
    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
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5215828copy number variation1nstd204human GRCh38.p13 chr2: 219,192,501-219,347,300 , GRCh37.p13 chr2: 220,057,223-220,212,022 DNAJB2, TUBA4B, 10 more genes
    nsv4916937copy number variation1nstd200human GRCh38 chr2: 219,284,140-219,286,975 , GRCh37.p13 chr2: 220,148,862-220,151,697 DNAJB2
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4583017copy number variation1nstd183human GRCh37 chr2: 220,137,991-220,174,637 , GRCh38.p12 chr2: 219,273,269-219,309,915 PTPRN, MIR153-1, 1 more genes
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