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Items: 1 to 20 of 244

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146767copy number variation1nstd232human GRCh37.p13 chr17: 42,428,826-42,428,914 , GRCh38.p12 chr17: 44,351,458-44,351,546 GRN, FAM171A2
    nsv7140635copy number variation1nstd232human GRCh37.p13 chr17: 42,429,935-42,430,023 , GRCh38.p12 chr17: 44,352,567-44,352,655 GRN, FAM171A2
    nsv7098687copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 42,429,693-42,429,885 , GRCh38 chr17: 44,352,325-44,352,517 GRN, FAM171A2
    nsv6985276copy number variation1nstd229human GRCh38 chr17: 44,354,801-44,356,000 , GRCh37.p13 chr17: 42,432,169-42,433,368 FAM171A2
    nsv6982861copy number variation1nstd229human GRCh38 chr17: 38,291,672-47,498,259 , GRCh37.p13 chr17: 36,510,266-45,575,625 KRT20, PLEKHH3, 442 more genes
    nsv6310388copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,426,434-42,430,018 , GRCh38.p12 chr17: 44,349,066-44,352,650 GRN, FAM171A2
    nsv6133311copy number variation3nstd213human GRCh37 chr17: 41,970,000-42,760,001 , GRCh38.p12 chr17: 43,892,632-44,682,633 FZD2, GRN, 43 more genes
    nsv5704582mobile element insertion2nstd211human GRCh38 chr17: 44,353,453-44,353,453 , GRCh37.p13 chr17: 42,430,821-42,430,821 GRN, FAM171A2
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5542865insertion1nstd206human GRCh38 chr17: 44,353,437-44,353,437 , GRCh37.p13 chr17: 42,430,805-42,430,805 FAM171A2, GRN
    nsv4681862copy number variation1nstd102humanUncertain significance GRCh37 chr17: 42,105,175-42,430,244 , GRCh38.p12 chr17: 44,027,807-44,352,876 G6PC3, ATXN7L3, 21 more genes
    nsv4624168copy number variation1nstd183human GRCh37 chr17: 42,430,841-42,432,779 , GRCh38.p12 chr17: 44,353,473-44,355,411 GRN, FAM171A2
    nsv4543529insertion1nstd166human GRCh37.p13 chr17: 42,430,805-42,430,805 , GRCh38.p12 chr17: 44,353,437-44,353,437 GRN, FAM171A2
    nsv4414867copy number variation1nstd174human GRCh37 chr17: 42,430,244-42,432,779 , GRCh38.p12 chr17: 44,352,876-44,355,411 FAM171A2, GRN
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4269449copy number variation1nstd166human GRCh37.p13 chr17: 42,428,000-42,433,000 , GRCh38.p12 chr17: 44,350,632-44,355,632 FAM171A2, GRN
    nsv4261745copy number variation1nstd166human GRCh37.p13 chr17: 42,437,170-42,439,039 , GRCh38.p12 chr17: 44,359,802-44,361,671 FAM171A2
    nsv3919609copy number variation1nstd102humanPathogenic GRCh37 chr17: 41,648,246-42,839,745 , GRCh38 chr17: 43,570,878-44,762,377 , NCBI36 chr17: 39,003,772-40,195,271 SMCO4P1, LINC01180, 59 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
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