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Items: 1 to 20 of 12313

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6131680insertion1nstd186human GRCh37 chr16: 2,102,234-2,102,266 , GRCh38.p12 chr16: 2,052,233-2,052,265 TSC2
    nsv6131079mobile element insertion1nstd186human GRCh37 chr17: 64,637,294-64,637,345 , GRCh38.p12 chr17: 66,641,176-66,641,227 PRKCA
    nsv6130409insertion1nstd186human GRCh37 chr12: 132,401,820-132,401,872 , GRCh38.p12 chr12: 131,917,275-131,917,327 ULK1
    nsv6129236insertion1nstd186human GRCh37 chr17: 78,660,160-78,660,160 , GRCh38.p12 chr17: 80,686,360-80,686,360 RPTOR
    nsv6129169insertion1nstd186human GRCh37 chr12: 132,401,835-132,401,857 , GRCh38.p12 chr12: 131,917,290-131,917,312 ULK1
    nsv6128687copy number variation1nstd186human GRCh37 chr17: 78,694,569-78,698,499 , GRCh38.p12 chr17: 80,720,769-80,724,699 , RPTOR
    nsv6128065copy number variation1nstd186human GRCh37 chr17: 78,721,796-78,722,281 , GRCh38.p12 chr17: 80,747,996-80,748,481 RPTOR
    nsv6126556copy number variation1nstd186human GRCh37 chr17: 64,332,752-64,332,805 , GRCh38.p12 chr17: 66,336,634-66,336,687 PRKCA
    nsv6126100copy number variation1nstd186human GRCh37 chr17: 78,575,354-78,576,272 , GRCh38.p12 chr17: 80,601,554-80,602,472 RPL31P7, RPTOR
    nsv6125350copy number variation1nstd186human GRCh37 chr17: 78,665,069-78,665,131 , GRCh38.p12 chr17: 80,691,269-80,691,331 RPTOR
    nsv6123711copy number variation1nstd186human GRCh37 chr19: 50,370,889-50,370,958 , GRCh38.p12 chr19: 49,867,632-49,867,701 AKT1S1, PNKP
    nsv6119969copy number variation1nstd186human GRCh37 chr1: 22,420,791-22,421,089 , GRCh38.p12 chr1: 22,094,298-22,094,596 CDC42
    nsv6116900copy number variation1nstd186human GRCh37 chr17: 64,794,356-64,795,702 , GRCh38.p12 chr17: 66,798,238-66,799,584 PRKCA
    nsv6114990mobile element insertion1nstd186human GRCh37 chr17: 64,419,953-64,420,004 , GRCh38.p12 chr17: 66,423,835-66,423,886 PRKCA
    nsv6113585mobile element insertion1nstd186human GRCh37 chr17: 64,334,212-64,334,263 , GRCh38.p12 chr17: 66,338,094-66,338,145 PRKCA
    nsv6112799copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,089,795-2,185,919 , GRCh38.p12 chr16: 2,039,794-2,135,918 NTHL1, PKD1, 6 more genes
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv6112792copy number variation1nstd102humanPathogenic GRCh37 chr16: 2,114,273-2,122,984 , GRCh38.p12 chr16: 2,064,272-2,072,983 TSC2
    nsv6112768copy number variation1nstd102humanPathogenic GRCh37 chr5: 34,984,696-46,405,042 , GRCh38.p12 chr5: 34,984,591-46,404,940 LIFR-AS1, FGF10-AS1, 137 more genes
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