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Items: 1 to 20 of 185

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6845957copy number variation1nstd229human GRCh38 chr8: 30,605,001-30,638,300 , GRCh37.p13 chr8: 30,462,518-30,495,817 SMIM18, GTF2E2
    nsv6841058copy number variation1nstd229human GRCh38 chr8: 30,642,848-30,677,920 , GRCh37.p13 chr8: 30,500,365-30,535,437 RNU5A-3P, SMIM18, 2 more genes
    nsv6839985copy number variation1nstd229human GRCh38 chr8: 28,051,949-30,854,206 , GRCh37.p13 chr8: 27,909,466-30,711,722 PPP2CB, RNU6-1218P, 59 more genes
    nsv6637025copy number variation1nstd102humanPathogenic GRCh37 chr8: 26,808,969-38,346,383 , GRCh38.p12 chr8: 26,951,452-38,488,865 LINC02948, LOC105379354, 185 more genes
    nsv6636650copy number variation1nstd102humanUncertain significance GRCh37 chr8: 30,459,775-30,564,837 , GRCh38.p12 chr8: 30,602,258-30,707,320 SMIM18, GTF2E2, 2 more genes
    nsv6634301complex substitution1nstd102humanPathogenic GRCh38.p12 chr8: 208,048-43,132,174 , GRCh37 chr8: 158,048-42,987,317 NAT1, NAT2, 758 more genes
    nsv6315323complex substitution1nstd102humanPathogenic GRCh38.p12 chr8: 208,048-43,164,161 , GRCh37 chr8: 158,048-43,019,304 NAT1, NAT2, 760 more genes
    nsv6137272copy number variation1nstd213human GRCh37 chr8: 26,370,000-35,590,001 , GRCh38.p12 chr8: 26,512,484-35,732,483 ADRA1A, CHRNA2, 141 more genes
    nsv6137044copy number variation1nstd213human GRCh37 chr8: 12,460,000-33,310,001 , GRCh38.p12 chr8: 12,602,491-33,452,483 NAT1, ASAH1, 322 more genes
    nsv6136664copy number variation1nstd213human GRCh37 chr8: 30,190,000-30,590,001 , GRCh38.p12 chr8: 30,332,484-30,732,484 GSR, GTF2E2, 10 more genes
    nsv6136663copy number variation1nstd213human GRCh37 chr8: 30,090,000-31,400,001 , GRCh38.p12 chr8: 30,232,484-31,542,485 GTF2E2, UBXN8, 24 more genes
    nsv6136573copy number variation1nstd213human GRCh37 chr8: 25,790,000-30,640,001 , GRCh38.p12 chr8: 25,932,484-30,782,485 EPHX2, GSR, 99 more genes
    nsv6136029copy number variation1nstd213human GRCh37 chr8: 26,360,000-35,600,001 , GRCh38.p12 chr8: 26,502,484-35,742,483 ADRA1A, CHRNA2, 141 more genes
    nsv5301473copy number variation1nstd204human GRCh38.p13 chr8: 30,572,869-30,699,580 , GRCh37.p13 chr8: 30,430,386-30,557,097 , RNU5A-3P, 3 more genes
    nsv5257133copy number variation1nstd204human GRCh38.p13 chr8: 30,618,301-30,699,600 , GRCh37.p13 chr8: 30,475,818-30,557,117 GTF2E2, RNU5A-3P, 2 more genes
    nsv5255193copy number variation1nstd204human GRCh38.p13 chr8: 30,636,760-30,637,792 , GRCh37.p13 chr8: 30,494,277-30,495,309 GTF2E2, SMIM18
    nsv5200364copy number variation1nstd102humanPathogenic GRCh37 chr8: 176,814-43,396,776 , GRCh38.p12 chr8: 226,814-43,541,633 LOC100130612, XPO7, 770 more genes
    nsv5110661mobile element insertion1nstd203human GRCh38 chr8: 30,635,994-30,636,008 , GRCh37.p13 chr8: 30,493,511-30,493,525 SMIM18, GTF2E2
    nsv4954307copy number variation1nstd200human GRCh38 chr8: 30,572,879-30,699,571 , GRCh37.p13 chr8: 30,430,396-30,557,088 , SMIM18, 3 more genes
    nsv4768211inversion1nstd199human GRCh37 chr8: 23,474,464-53,327,098 , GRCh38.p12 chr8: 23,616,951-52,414,538 , ADRA1A, 411 more genes
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