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Items: 1 to 20 of 310

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5978115copy number variation1nstd209human GRCh38 chrX: 130,165,571-130,168,670 , GRCh37.p13 chrX: 129,299,545-129,302,644 RAB33A, AIFM1
    nsv5879284copy number variation1nstd209human GRCh38 chrX: 130,128,301-130,128,879 , GRCh37.p13 chrX: 129,262,276-129,262,854 RAB33A, AIFM1
    nsv5725342mobile element insertion2nstd211human GRCh38 chrX: 130,158,732-130,158,732 , GRCh37.p13 chrX: 129,292,706-129,292,706 RAB33A, AIFM1
    nsv5611822insertion1nstd207human GRCh38 chrX: 130,148,900-130,148,900 , GRCh37.p13 chrX: 129,282,875-129,282,875 AIFM1, RAB33A
    nsv5059979copy number variation1nstd102humanPathogenic GRCh37 chrX: 56,469,080-155,233,731 , GRCh38.p12 chrX: 56,442,647-156,004,066 VDAC1P1, LOC105373299, 1364 more genes
    nsv4769250copy number variation1nstd201human GRCh37 chrX: 96,096,220-155,208,244 , GRCh38.p12 chrX: 96,841,221-155,978,579 , AGTR2, 959 more genes
    nsv4769249copy number variation1nstd201human GRCh37 chrX: 61,728,816-155,233,846 , GRCh38.p12 chrX: 62,509,346-156,004,181 , ABCB7, 1364 more genes
    nsv4728692copy number variation1nstd102humanPathogenic GRCh37 chrX: 117,120,780-129,850,994 , GRCh38.p12 chrX: 117,986,817-130,717,020 LOC107985709, SLC25A5, 171 more genes
    nsv4728533copy number variation1nstd102humanPathogenic GRCh37 chrX: 94,264,404-155,233,731 , GRCh38.p12 chrX: 95,009,405-156,004,066 CT45A10, MIR224, 968 more genes
    nsv4728499copy number variation1nstd102humanPathogenic GRCh37 chrX: 55,507,789-155,198,481 , GRCh38.p12 chrX: 55,481,356-155,968,816 GABRE, RN7SL325P, 1371 more genes
    nsv4685620copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 122,132,166-155,097,214 , GRCh38.p12 chrX: 122,998,313-155,867,551 ABCD1, AMD1P2, 560 more genes
    nsv4679893copy number variation1nstd189human GRCh37.p13 chrX: 113,759,648-150,222,670 , GRCh38.p12 chrX: 114,525,195-151,054,198 , AGTR2, 532 more genes
    nsv4674753copy number variation1nstd102humanPathogenic GRCh37 chrX: 78,444,738-155,233,731 , GRCh38.p12 chrX: 79,189,241-156,004,066 PAK3, ZCCHC12, 1069 more genes
    nsv4674080copy number variation1nstd102humanPathogenic GRCh37 chrX: 84,387,417-155,233,731 , GRCh38.p12 chrX: 85,132,411-156,004,066 CSTF2, GPR119, 1029 more genes
    nsv4673891copy number variation1nstd102humanPathogenic GRCh37 chrX: 117,119,895-129,850,963 , GRCh38.p12 chrX: 117,985,932-130,716,989 CT47A2, HSPA8P1, 171 more genes
    nsv4578241copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 122,757,437-155,208,244 , GRCh38.p12 chrX: 123,623,586-155,978,579 ABCD1, AMD1P2, 557 more genes
    nsv4576960mobile element insertion1nstd166human GRCh37.p13 chrX: 129,279,299-129,279,299 , GRCh38.p12 chrX: 130,145,324-130,145,324 RAB33A, AIFM1
    nsv4454214copy number variation1nstd102humanPathogenic GRCh37 chrX: 122,924,044-155,233,731 , GRCh38.p12 chrX: 123,790,194-156,004,066 LOC107985666, FLNA, 555 more genes
    nsv4452492copy number variation1nstd102humanPathogenic GRCh37 chrX: 58,455,352-155,233,731 , GRCh38.p12 chrX: 58,428,919-156,004,066 RNU6-122P, LOC100421910, 1347 more genes
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