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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7075861inversion1nstd229human GRCh38 chr21: 32,596,447-36,013,453 , GRCh37.p13 chr21: 33,968,757-37,385,751 , IFNAR2, 64 more genes
    nsv7060386inversion1nstd229human GRCh38 chr21: 34,646,865-38,528,329 , GRCh37.p13 chr21: 36,019,164-39,900,253 , TTC3-AS1, 70 more genes
    nsv7037427copy number variation1nstd229human GRCh38 chr21: 35,857,946-35,903,272 , GRCh37.p13 chr21: 37,230,244-37,275,570 PPP1R2P2, MTND2P1
    nsv7024638copy number variation1nstd229human GRCh38 chr21: 35,729,495-35,946,562 , GRCh37.p13 chr21: 37,101,793-37,318,860 PPP1R2P2, MTND2P1
    nsv7023245copy number variation1nstd229human GRCh38 chr21: 35,885,181-35,932,409 , GRCh37.p13 chr21: 37,257,479-37,304,707 PPP1R2P2, MTND2P1
    nsv7022032copy number variation1nstd229human GRCh38 chr21: 35,855,905-35,899,221 , GRCh37.p13 chr21: 37,228,203-37,271,519 PPP1R2P2, MTND2P1
    nsv6637341copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,248,476-37,646,409 , GRCh38.p12 chr21: 35,876,178-36,274,111 LOC101928269, LOC105369306, 16 more genes
    nsv6626643copy number variation1nstd224human GRCh37 chr21: 37,195,391-37,485,062 , GRCh38.p12 chr21: 35,823,093-36,112,764 SETD4, CBR1-AS1, 10 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6554269copy number variation1nstd223human GRCh38 chr21: 35,883,901-35,888,500 , GRCh37.p13 chr21: 37,256,199-37,260,798 PPP1R2P2
    nsv6544297copy number variation1nstd223human GRCh38 chr21: 35,882,701-35,905,800 , GRCh37.p13 chr21: 37,254,999-37,278,098 PPP1R2P2, MTND2P1
    nsv6536930copy number variation1nstd223human GRCh38 chr21: 35,882,901-35,887,600 , GRCh37.p13 chr21: 37,255,199-37,259,898 PPP1R2P2
    nsv6535757copy number variation1nstd223human GRCh38 chr21: 35,883,101-35,903,500 , GRCh37.p13 chr21: 37,255,399-37,275,798 PPP1R2P2, MTND2P1
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
    nsv6314199copy number variation1nstd102humanUncertain significance GRCh37 chr21: 36,921,412-37,475,794 , GRCh38.p12 chr21: 35,549,114-36,103,496 SETD4, EZH2P1, 14 more genes
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6311248copy number variation2nstd102humanUncertain significance GRCh37 chr21: 32,439,271-39,212,984 , GRCh38.p12 chr21: 31,066,952-37,840,682 ATP5PO, LOC105372789, 131 more genes
    nsv6290141copy number variation1nstd102humanLikely pathogenic GRCh38 chr21: 34,799,252-36,071,979 , GRCh37.p13 chr21: 36,171,549-37,444,277 RUNX1, CBR1, 16 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
    nsv6134054copy number variation1nstd213human GRCh37 chr21: 15,200,000-37,410,001 , GRCh38.p12 chr21: 13,827,679-36,037,703 , ATP5PF, 320 more genes
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