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Items: 1 to 20 of 234

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7044080inversion1nstd229human GRCh38 chr2: 136,783,750-142,804,814 , GRCh37.p13 chr2: 137,541,320-143,562,383 LOC105373634, LOC107985822, 42 more genes
    nsv6695248copy number variation1nstd229human GRCh38 chr2: 138,508,364-138,523,668 , GRCh37.p13 chr2: 139,265,934-139,281,238 SPOPL
    nsv6691843copy number variation1nstd229human GRCh38 chr2: 138,529,309-138,546,798 , GRCh37.p13 chr2: 139,286,879-139,304,368 SPOPL
    nsv6691605copy number variation1nstd229human GRCh38 chr2: 136,115,914-144,517,285 , GRCh37.p13 chr2: 136,873,484-145,274,852 LOC105373652, LOC105373649, 68 more genes
    nsv6690209copy number variation1nstd229human GRCh38 chr2: 136,466,024-140,671,797 , GRCh37.p13 chr2: 137,223,594-141,429,366 LRP1B, LOC101928273, 35 more genes
    nsv6690039copy number variation1nstd229human GRCh38 chr2: 138,554,793-138,555,706 , GRCh37.p13 chr2: 139,312,363-139,313,276 SPOPL
    nsv6689237copy number variation1nstd229human GRCh38 chr2: 138,526,701-138,531,600 , GRCh37.p13 chr2: 139,284,271-139,289,170 SPOPL
    nsv6688139copy number variation1nstd229human GRCh38 chr2: 138,526,733-138,531,577 , GRCh37.p13 chr2: 139,284,303-139,289,147 SPOPL
    nsv6687382copy number variation1nstd229human GRCh38 chr2: 138,481,742-138,562,258 , GRCh37.p13 chr2: 139,239,312-139,319,828 SPOPL, SPOPL-DT
    nsv6687229copy number variation1nstd229human GRCh38 chr2: 138,505,081-138,505,114 , GRCh37.p13 chr2: 139,262,651-139,262,684 SPOPL
    nsv6685197copy number variation1nstd229human GRCh38 chr2: 138,538,528-138,542,688 , GRCh37.p13 chr2: 139,296,098-139,300,258 SPOPL
    nsv6681232copy number variation1nstd229human GRCh38 chr2: 138,497,421-138,501,056 , GRCh37.p13 chr2: 139,254,991-139,258,626 SPOPL-DT, SPOPL
    nsv6343714copy number variation1nstd223human GRCh38 chr2: 138,552,372-138,552,922 , GRCh37.p13 chr2: 139,309,942-139,310,492 SPOPL
    nsv6338356copy number variation1nstd223human GRCh38 chr2: 138,560,701-138,561,500 , GRCh37.p13 chr2: 139,318,271-139,319,070 SPOPL
    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
    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
    nsv6148598copy number variation1nstd214human GRCh38 chr2: 138,524,887-138,524,957 , GRCh37.p13 chr2: 139,282,457-139,282,527 SPOPL
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