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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5674259insertion1nstd102humanPathogenic GRCh37 chr17: 48,265,303-48,265,303 , GRCh38 chr17: 50,187,942-50,187,942 COL1A1
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5282972copy number variation1nstd204human GRCh38.p13 chr17: 50,188,601-50,199,600 , GRCh37.p13 chr17: 48,265,962-48,276,961 COL1A1
    nsv4728336copy number variation1nstd102humanPathogenic GRCh37 chr17: 48,271,306-48,278,757 , GRCh38.p12 chr17: 50,193,945-50,201,396 COL1A1
    nsv4683542copy number variation1nstd102humanPathogenic GRCh37 chr17: 48,272,062-48,280,990 , GRCh38.p12 chr17: 50,194,701-50,203,629 COL1A1
    nsv4683056copy number variation1nstd102humanPathogenic GRCh37 chr17: 48,262,843-48,270,231 , GRCh38.p12 chr17: 50,185,482-50,192,870 COL1A1
    nsv4681218copy number variation1nstd102humanUncertain significance GRCh37 chr17: 48,267,594-48,267,751 , GRCh38.p12 chr17: 50,190,233-50,190,390 COL1A1
    nsv4673292copy number variation1nstd186human GRCh37 chr17: 48,276,201-48,279,500 , GRCh38.p12 chr17: 50,198,840-50,202,139 COL1A1
    nsv4625882copy number variation1nstd183human GRCh37 chr17: 48,276,201-48,279,500 , GRCh38.p12 chr17: 50,198,840-50,202,139 COL1A1
    nsv4619006copy number variation1nstd183human GRCh37 chr17: 48,270,321-48,270,417 , GRCh38.p12 chr17: 50,192,960-50,193,056 COL1A1
    nsv4544928insertion1nstd166human GRCh37.p13 chr17: 48,276,071-48,276,071 , GRCh38.p12 chr17: 50,198,710-50,198,710 COL1A1
    nsv4377716copy number variation1nstd173human GRCh37 chr17: 48,259,168-48,292,011 , GRCh38.p12 chr17: 50,181,807-50,214,650 LINC01969, COL1A1
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4253242copy number variation1nstd166human GRCh37.p13 chr17: 48,273,137-48,273,231 , GRCh38.p12 chr17: 50,195,776-50,195,870 COL1A1
    nsv3921455copy number variation1nstd102humanPathogenic NCBI36 chr17: 44,793,516-45,701,800 , GRCh37 chr17: 47,438,517-48,346,801 , GRCh38 chr17: 49,361,155-50,269,440 DLX4, H1-9P, 32 more genes
    nsv3920880copy number variation1nstd102humanPathogenic GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970 LOC107984983, LOC102724732, 85 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3912763copy number variation1nstd102humanPathogenic NCBI36 chr17: 44,570,225-47,580,169 , GRCh37 chr17: 47,215,226-50,225,170 , GRCh38 chr17: 49,137,864-52,147,810 CACNA1G, SUMO2P7, 77 more genes
    nsv3911891delins1nstd102humanPathogenic GRCh37 chr17: 48,265,908-48,265,910 , GRCh38 chr17: 50,188,547-50,188,549 COL1A1
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