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Items: 1 to 20 of 158

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3879851copy number variation1nstd102humanPathogenic GRCh38 chrX: 38,401,255-38,401,693 , GRCh37 chrX: 38,260,508-38,260,946 OTC
    nsv7098528copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,211,793-38,212,046 , GRCh38.p12 chrX: 38,352,540-38,352,793 OTC
    nsv4683444copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,226,524-38,226,702 , GRCh38.p12 chrX: 38,367,271-38,367,449 OTC
    nsv7098529copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,262,851-38,263,013 , GRCh38.p12 chrX: 38,403,598-38,403,760 OTC
    nsv6313454copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,229,029-38,229,150 , GRCh38.p12 chrX: 38,369,776-38,369,897 OTC
    nsv4682002copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 38,211,584-38,212,046 , GRCh38.p12 chrX: 38,352,331-38,352,793 OTC
    nsv6315074copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 38,280,275-38,280,335 , GRCh38.p12 chrX: 38,421,022-38,421,082 OTC
    nsv5674164copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,210,736-38,281,703 , GRCh38.p12 chrX: 38,351,483-38,422,450 OTC, CRIPTOP1
    nsv3887027copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,240,575-38,272,343 , GRCh38 chrX: 38,381,322-38,413,090 OTC, CRIPTOP1
    nsv6313455copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,240,585-38,272,343 , GRCh38.p12 chrX: 38,381,332-38,413,090 OTC, CRIPTOP1
    nsv997105copy number variation1nstd45humanPathogenic GRCh37 chrX: 38,211,736-38,280,703 , GRCh38.p12 chrX: 38,352,483-38,421,450 OTC, TDGF1P1
    nsv5381669copy number variation1nstd102humanUncertain significance GRCh37 chrX: 38,156,517-38,240,702 , GRCh38.p12 chrX: 38,297,264-38,381,449 OTC, RPGR
    nsv7098658copy number variation1nstd102humanUncertain significance GRCh37 chrX: 38,176,549-38,215,080 , GRCh38.p12 chrX: 38,317,296-38,355,827 OTC, RPGR
    nsv4682902copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,128,859-38,280,355 , GRCh38.p12 chrX: 38,269,606-38,421,102 OTC, RPGR, 1 more genes
    nsv7098411copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 38,128,879-38,280,335 , GRCh38.p12 chrX: 38,269,626-38,421,082 OTC, CRIPTOP1, 1 more genes
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 OTC, NANOGNBP3, 2154 more genes
    nsv3913255copy number variation2nstd102humanPathogenic NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895 OTC, NHS-AS1, 2154 more genes
    nsv3907094copy number variation4nstd102humanPathogenic GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065 OTC, GPR119, 2153 more genes
    nsv3878553copy number variation2nstd102humanPathogenic GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100 OTC, H2AB2, 2152 more genes
    nsv3898149copy number variation1nstd102humanPathogenic GRCh38 chrX: 20,297-156,026,127 , NCBI36 chrX: 10,297-154,908,986 , GRCh37 chrX: 70,297-155,255,792 OTC, OR3B1P, 2154 more genes
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