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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7051289inversion1nstd229human GRCh38 chr2: 128,346,905-128,619,238 , GRCh37.p13 chr2: 129,104,479-129,376,812 RNA5SP103, LOC105373611, 2 more genes
    nsv7045493inversion1nstd229human GRCh38 chr2: 128,354,854-128,708,071 , GRCh37.p13 chr2: 129,112,428-129,465,645 LOC105373610, LOC105373611, 2 more genes
    nsv6695087copy number variation1nstd229human GRCh38 chr2: 128,512,636-128,523,083 , GRCh37.p13 chr2: 129,270,210-129,280,657 LOC105373611, ISCA1P6
    nsv6694450copy number variation1nstd229human GRCh38 chr2: 128,251,947-128,531,875 , GRCh37.p13 chr2: 129,009,521-129,289,449 LOC105373610, RNA5SP103, 3 more genes
    nsv6689525copy number variation1nstd229human GRCh38 chr2: 128,477,084-129,647,405 , GRCh37.p13 chr2: 129,234,658-130,404,978 LOC105373613, LINC01854, 6 more genes
    nsv6686451copy number variation1nstd229human GRCh38 chr2: 128,458,649-128,641,136 , GRCh37.p13 chr2: 129,216,223-129,398,710 LOC105373611, ISCA1P6
    nsv6685900copy number variation1nstd229human GRCh38 chr2: 128,370,123-128,830,853 , GRCh37.p13 chr2: 129,127,697-129,588,427 RNA5SP103, LOC105373610, 2 more genes
    nsv6627684copy number variation1nstd224human GRCh37 chr2: 129,222,802-129,549,283 , GRCh38.p12 chr2: 128,465,228-128,791,709 ISCA1P6, LOC105373611
    nsv6352177copy number variation1nstd223human GRCh38 chr2: 128,519,208-128,520,771 , GRCh37.p13 chr2: 129,276,782-129,278,345 LOC105373611, ISCA1P6
    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
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 more genes
    nsv5557549sequence alteration1nstd206human GRCh38 chr2: 128,285,186-129,050,431 , GRCh37.p13 chr2: 129,042,760-129,808,004 HS6ST1, ISCA1P6, 4 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
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