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Items: 1 to 20 of 77742

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6309731copy number variation1nstd102humanPathogenic GRCh37 chr15: 48,782,167-48,927,084 , GRCh38.p12 chr15: 48,489,970-48,634,887 FBN1
    nsv3878384copy number variation1nstd102humanPathogenic GRCh38 chr15: 48,410,970-48,537,828 , GRCh37 chr15: 48,703,167-48,830,025 FBN1
    nsv6309793copy number variation1nstd102humanPathogenic GRCh37 chr15: 48,703,177-48,830,015 , GRCh38.p12 chr15: 48,410,980-48,537,818 FBN1
    nsv4682035copy number variation1nstd102humanPathogenic GRCh37 chr15: 48,795,974-48,905,299 , GRCh38.p12 chr15: 48,503,777-48,613,102 FBN1
    nsv7094394copy number variation1nstd102humanPathogenic GRCh37 chr15: 67,358,493-67,457,742 , GRCh38.p12 chr15: 67,066,155-67,165,404 SMAD3
    nsv3881185copy number variation1nstd102humanPathogenic GRCh37 chr15: 48,703,167-48,789,608 , GRCh38 chr15: 48,410,970-48,497,411 FBN1
    nsv3874987copy number variation1nstd102humanPathogenic GRCh38 chr2: 47,403,067-47,483,228 , GRCh37 chr2: 47,630,206-47,710,367 MSH2
    nsv1397982copy number variation1nstd102humanPathogenic GRCh38 chr2: 47,403,124-47,480,871 , GRCh37 chr2: 47,630,263-47,708,010 MSH2
    nsv3886121copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,639,553-47,710,367 , GRCh38 chr2: 47,412,414-47,483,228 MSH2
    nsv1398467copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,639,553-47,710,360 , GRCh38 chr2: 47,412,414-47,483,221 MSH2
    nsv3877028copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,641,408-47,710,088 , GRCh38.p12 chr2: 47,414,269-47,482,949 MSH2
    nsv1398427copy number variation1nstd102humanPathogenic GRCh38 chr2: 47,403,124-47,471,062 , GRCh37 chr2: 47,630,263-47,698,201 MSH2
    nsv1397940copy number variation1nstd102humanPathogenic GRCh37 chr2: 47,630,263-47,693,947 , GRCh38 chr2: 47,403,124-47,466,808 MSH2
    nsv1398079copy number variation1nstd102humanPathogenic GRCh37 chr15: 48,703,523-48,760,718 , GRCh38 chr15: 48,411,326-48,468,521 FBN1
    nsv4682742copy number variation1nstd102humanPathogenic GRCh37 chr15: 48,703,177-48,758,065 , GRCh38.p12 chr15: 48,410,980-48,465,868 FBN1
    nsv7097105copy number variation1nstd102humanPathogenic GRCh37 chr7: 117,120,137-117,173,634 , GRCh38.p12 chr7: 117,480,083-117,533,580 CFTR
    nsv1397932copy number variation1nstd102humanPathogenic GRCh38 chr2: 47,429,742-47,483,221 , GRCh37 chr2: 47,656,881-47,710,360 MSH2
    nsv3889016copy number variation1nstd102humanPathogenic GRCh38 chr15: 48,415,161-48,468,554 , GRCh37 chr15: 48,707,358-48,760,751 FBN1
    nsv4685914copy number variation3nstd102humanPathogenic GRCh37 chr2: 47,657,081-47,709,917 , GRCh38.p12 chr2: 47,429,942-47,482,778 MSH2
    nsv4436263copy number variation1nstd102humanPathogenic GRCh37 chr7: 117,254,667-117,307,162 , GRCh38 chr7: 117,614,613-117,667,108 CFTR
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