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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096197copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,806,102-129,076,137 , GRCh38.p12 chr2: 127,048,526-128,318,563 IWS1, ZFP91P1, 35 more genes
    nsv7095853copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,451,420-129,076,137 , GRCh38.p12 chr2: 126,693,844-128,318,563 SRMP3, DYNLT3P2, 41 more genes
    nsv7051453inversion1nstd229human GRCh38 chr2: 127,202,996-128,332,828 , GRCh37.p13 chr2: 127,960,572-129,090,402 WDR33, RNU4-48P, 32 more genes
    nsv6696273copy number variation1nstd229human GRCh38 chr2: 127,748,601-128,152,500 , GRCh37.p13 chr2: 128,506,175-128,910,074 POLR2D, RPS26P19, 11 more genes
    nsv6690949copy number variation1nstd229human GRCh38 chr2: 127,849,101-127,852,500 , GRCh37.p13 chr2: 128,606,675-128,610,074 POLR2D
    nsv6690638copy number variation1nstd229human GRCh38 chr2: 127,855,826-127,861,737 , GRCh37.p13 chr2: 128,613,400-128,619,311 AMMECR1L, POLR2D, 1 more genes
    nsv6690221copy number variation1nstd229human GRCh38 chr2: 127,769,001-127,852,800 , GRCh37.p13 chr2: 128,526,575-128,610,374 POLR2D, ZFP91P1, 4 more genes
    nsv6688828copy number variation1nstd229human GRCh38 chr2: 127,436,502-128,393,799 , GRCh37.p13 chr2: 128,194,078-129,151,373 LOC107985944, LOC105373610, 25 more genes
    nsv6343024copy number variation1nstd223human GRCh38 chr2: 127,815,802-127,842,892 , GRCh37.p13 chr2: 128,573,376-128,600,466 POLR2D, ZFP91P1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6313823copy number variation1nstd102humanUncertain significance GRCh37 chr2: 128,024,782-129,332,242 , GRCh38.p12 chr2: 127,267,206-128,574,668 LOC107985803, ZFP91P1, 34 more genes
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290867copy number variation1nstd102humanPathogenic GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060 RNU6-675P, RNU6-1049P, 300 more genes
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv6134420copy number variation1nstd213human GRCh37 chr2: 117,140,000-144,230,001 , GRCh38.p12 chr2: 116,382,424-143,472,432 BIN1, CCNT2, 382 more genes
    nsv5985757copy number variation1nstd212human GRCh38 chr2: 127,848,919-127,849,010 , GRCh37.p13 chr2: 128,606,493-128,606,584 POLR2D
    nsv5955597insertion1nstd209human GRCh38 chr2: 127,856,290-127,856,290 , GRCh37.p13 chr2: 128,613,864-128,613,864 POLR2D
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
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