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Items: 1 to 20 of 110

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3889985copy number variation1nstd102humanPathogenic GRCh38 chr5: 78,839,427-78,955,294 , GRCh37.p13 chr5: 78,135,250-78,251,117 ARSB
    nsv6312303copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,076,210-78,181,660 , GRCh38.p12 chr5: 78,780,387-78,885,837 ARSB
    nsv3889753copy number variation1nstd102humanPathogenic GRCh38 chr5: 78,885,828-78,964,415 , GRCh37.p13 chr5: 78,181,651-78,260,238 ARSB
    nsv6312210copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,251,108-78,281,081 , GRCh38.p12 chr5: 78,955,285-78,985,258 ARSB
    nsv5673589copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,111,899-78,135,259 , GRCh38.p12 chr5: 78,816,076-78,839,436 ARSB
    nsv5673997copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,260,219-78,265,035 , GRCh38.p12 chr5: 78,964,396-78,969,212 ARSB
    nsv4683357copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,260,229-78,265,025 , GRCh38.p12 chr5: 78,964,406-78,969,202 ARSB
    nsv4578465copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,180,352-78,182,987 , GRCh38 chr5: 78,884,529-78,887,164 ARSB
    nsv4685706copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,111,022-78,111,871 , GRCh38.p12 chr5: 78,815,199-78,816,048 ARSB
    nsv7097291copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,251,108-78,251,335 , GRCh38.p12 chr5: 78,955,285-78,955,512 ARSB
    nsv6314241insertion1nstd102humanPathogenic GRCh37 chr5: 78,251,149-78,251,149 , GRCh38 chr5: 78,955,326-78,955,326 ARSB
    nsv3889093copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 78,258,638-78,272,427 , GRCh38 chr5: 78,962,815-78,976,604 ARSB
    nsv6634653copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 78,135,250-78,251,117 , GRCh38.p12 chr5: 78,839,427-78,955,294 ARSB
    nsv4454419copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 78,181,397-78,181,660 , GRCh38 chr5: 78,885,574-78,885,837 ARSB
    nsv7096789copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 78,135,159-78,135,269 , GRCh38.p12 chr5: 78,839,336-78,839,446 ARSB
    nsv6312160complex substitution1nstd102humanLikely pathogenic GRCh37 chr5: 78,241,273-78,248,429 , GRCh38.p12 chr5: 78,945,450-78,952,606 ARSB
    nsv3876972copy number variation1nstd102humanBenign GRCh37 chr5: 78,110,117-78,180,736 , GRCh38.p12 chr5: 78,814,294-78,884,913 ARSB
    nsv3883663copy number variation1nstd102humanBenign GRCh37 chr5: 78,110,117-78,150,147 , GRCh38.p12 chr5: 78,814,294-78,854,324 ARSB
    nsv3879633copy number variation1nstd102humanBenign GRCh37 chr5: 78,106,062-78,115,511 , GRCh38.p12 chr5: 78,810,239-78,819,688 ARSB
    nsv3877304copy number variation1nstd102humanBenign GRCh37 chr5: 78,280,531-78,287,810 , GRCh38.p12 chr5: 78,984,708-78,991,987 ARSB
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