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Items: 1 to 20 of 1685

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112754copy number variation1nstd102humanPathogenic GRCh37 chr4: 131,303,317-168,722,402 , GRCh38.p12 chr4: 130,382,162-167,801,251 MIR3139, CLGN, 407 more genes
    nsv5979177inversion1nstd209human GRCh38 chr11: 125,961,131-125,961,366 , GRCh37.p13 chr11: 125,831,026-125,831,261 CDON
    nsv5958408insertion1nstd209human GRCh38 chr3: 113,236,288-113,236,288 , GRCh37.p13 chr3: 112,955,135-112,955,135 BOC
    nsv5926336copy number variation1nstd209human GRCh38 chr9: 95,442,254-95,442,380 , GRCh37.p13 chr9: 98,204,536-98,204,662 PTCH1
    nsv5920998copy number variation1nstd209human GRCh38 chr9: 95,503,732-95,504,060 , GRCh37.p13 chr9: 98,266,014-98,266,342 PTCH1
    nsv5916092copy number variation1nstd209human GRCh38 chr9: 95,442,288-95,443,984 , GRCh37.p13 chr9: 98,204,570-98,206,266 PTCH1
    nsv5898167copy number variation1nstd209human GRCh38 chr3: 113,256,430-113,256,826 , GRCh37.p13 chr3: 112,975,277-112,975,673 BOC
    nsv5895689copy number variation1nstd209human GRCh38 chr3: 113,257,573-113,257,660 , GRCh37.p13 chr3: 112,976,420-112,976,507 BOC
    nsv5727272mobile element insertion2nstd211human GRCh38 chr11: 125,982,000-125,982,000 , GRCh37.p13 chr11: 125,851,895-125,851,895 CDON
    nsv5712737mobile element insertion1nstd211human GRCh38 chr11: 125,958,006-125,958,006 , GRCh37.p13 chr11: 125,827,901-125,827,901 CDON
    nsv5688718mobile element insertion1nstd211human GRCh38 chr4: 144,721,612-144,721,612 , GRCh37.p13 chr4: 145,642,764-145,642,764 HHIP
    nsv5679996mobile element insertion1nstd211human GRCh38 chr4: 144,648,390-144,648,390 , GRCh37.p13 chr4: 145,569,542-145,569,542 HHIP
    nsv5679788mobile element insertion2nstd211human GRCh38 chr3: 113,262,496-113,262,496 , GRCh37.p13 chr3: 112,981,343-112,981,343 BOC
    nsv5674244insertion1nstd102humanPathogenic GRCh37 chr9: 98,244,306-98,244,306 , GRCh38 chr9: 95,482,024-95,482,024 PTCH1
    nsv5674178copy number variation1nstd102humanPathogenic GRCh37 chr9: 98,204,264-98,271,831 , GRCh38.p12 chr9: 95,441,982-95,509,549 LOC100507346, PTCH1
    nsv5673897copy number variation1nstd102humanPathogenic GRCh37 chr9: 98,229,392-98,232,219 , GRCh38.p12 chr9: 95,467,110-95,469,937 PTCH1, LOC100507346
    nsv5673832copy number variation1nstd102humanPathogenic GRCh37 chr9: 98,247,957-98,248,166 , GRCh38.p12 chr9: 95,485,675-95,485,884 PTCH1
    nsv5656953insertion1nstd207human GRCh38 chr11: 125,974,402-125,974,402 , GRCh37.p13 chr11: 125,844,297-125,844,297 CDON
    nsv5647451insertion1nstd207human GRCh38 chr11: 125,961,132-125,961,132 , GRCh37.p13 chr11: 125,831,027-125,831,027 CDON
    nsv5615210insertion1nstd207human GRCh38 chr3: 113,236,288-113,236,288 , GRCh37.p13 chr3: 112,955,135-112,955,135 BOC
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