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Items: 1 to 20 of 335

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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
    nsv5972528copy number variation1nstd209human GRCh38 chrX: 129,445,431-129,457,766 , GRCh37.p13 chrX: 128,579,408-128,591,743 SMARCA1
    nsv5867651copy number variation1nstd209human GRCh38 chrX: 129,446,193-129,471,909 , GRCh37.p13 chrX: 128,580,170-128,605,886 SMARCA1
    nsv5728736mobile element insertion2nstd211human GRCh38 chrX: 129,504,581-129,504,581 , GRCh37.p13 chrX: 128,638,558-128,638,558 SMARCA1
    nsv5418083copy number variation1nstd206human GRCh38 chrX: 129,456,232-129,459,517 , GRCh37.p13 chrX: 128,590,209-128,593,494 SMARCA1
    nsv5196820mobile element insertion1nstd203human GRCh38 chrX: 129,512,633-129,512,648 , GRCh37.p13 chrX: 128,646,610-128,646,625 SMARCA1
    nsv5161892mobile element insertion1nstd203human GRCh38 chrX: 129,451,234-129,451,251 , GRCh37.p13 chrX: 128,585,211-128,585,228 SMARCA1
    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
    nsv4909127copy number variation1nstd200human GRCh38 chrX: 129,243,714-129,480,818 , GRCh37.p13 chrX: 128,377,691-128,614,795 RPS26P56, RNA5SP513, 2 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
    nsv4750826insertion1nstd199human GRCh37 chrX: 128,595,550-128,595,550 , GRCh38.p12 chrX: 129,461,573-129,461,573 SMARCA1
    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
    nsv4674800copy number variation1nstd102humanUncertain significance GRCh37 chrX: 128,210,719-128,669,654 , GRCh38.p12 chrX: 129,076,742-129,535,677 RNA5SP513, SMARCA1, 2 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
    nsv4674631copy number variation1nstd102humanUncertain significance GRCh37 chrX: 128,194,529-129,017,909 , GRCh38.p12 chrX: 129,060,552-129,883,933 OCRL, APLN, 9 more genes
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