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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5550525copy number variation1nstd206human GRCh38 chr22: 41,973,287-41,974,299 , GRCh37.p13 chr22: 42,369,291-42,370,303 SEPTIN3
    nsv5543387copy number variation1nstd206human GRCh38 chr22: 41,988,016-41,988,067 , GRCh37.p13 chr22: 42,384,020-42,384,071 SEPTIN3
    nsv5542293copy number variation1nstd206human GRCh38 chr22: 41,973,844-41,974,504 , GRCh37.p13 chr22: 42,369,848-42,370,508 SEPTIN3
    nsv5536497copy number variation1nstd206human GRCh38 chr22: 41,990,473-41,990,791 , GRCh37.p13 chr22: 42,386,477-42,386,795 SEPTIN3
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
    nsv5320610copy number variation1nstd204human GRCh38.p13 chr22: 41,973,817-41,974,499 , GRCh37.p13 chr22: 42,369,821-42,370,503 SEPTIN3
    nsv5295752copy number variation1nstd204human GRCh38.p13 chr22: 41,974,101-41,977,500 , GRCh37.p13 chr22: 42,370,105-42,373,504 SEPTIN3
    nsv5294163copy number variation1nstd204human GRCh38.p13 chr22: 41,962,701-42,147,200 , GRCh37.p13 chr22: 42,358,705-42,518,516 , SNORD13P1, 15 more genes
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 more genes
    nsv5030655copy number variation1nstd200human GRCh38 chr22: 41,984,921-41,990,072 , GRCh37.p13 chr22: 42,380,925-42,386,076 SEPTIN3
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729889copy number variation1nstd102humanUncertain significance GRCh37 chr22: 42,158,393-42,409,550 , GRCh38.p12 chr22: 41,762,389-42,013,546 CCDC134, MIR378I, 11 more genes
    nsv4729846copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,853,620-42,385,978 , GRCh38.p12 chr22: 41,457,616-41,989,974 RNU6ATAC22P, CSDC2, 23 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4630486copy number variation1nstd183human GRCh37 chr22: 42,277,420-42,625,797 , GRCh38.p12 chr22: 41,881,416-42,229,791 , SEPTIN3, 24 more genes
    nsv4535635copy number variation1nstd166human GRCh37.p13 chr22: 42,200,998-42,447,000 , GRCh38.p12 chr22: 41,804,994-42,050,996 MIR378I, CCDC134, 10 more genes
    nsv4515152mobile element insertion1nstd166human GRCh37.p13 chr22: 42,394,062-42,394,062 , GRCh38.p12 chr22: 41,998,058-41,998,058 SEPTIN3, WBP2NL
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
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