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Items: 1 to 20 of 414

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5905139copy number variation1nstd209human GRCh38 chr2: 210,484,415-210,485,761 , GRCh37.p13 chr2: 211,349,139-211,350,485 CPS1
    nsv5898271copy number variation1nstd209human GRCh38 chr2: 210,587,559-210,587,623 , GRCh37.p13 chr2: 211,452,283-211,452,347 CPS1
    nsv5897796copy number variation1nstd209human GRCh38 chr2: 210,554,081-210,554,208 , GRCh37.p13 chr2: 211,418,805-211,418,932 CPS1
    nsv5890719copy number variation1nstd209human GRCh38 chr2: 210,535,204-210,535,267 , GRCh37.p13 chr2: 211,399,928-211,399,991 CPS1
    nsv5889273copy number variation1nstd209human GRCh38 chr2: 210,512,981-210,513,058 , GRCh37.p13 chr2: 211,377,705-211,377,782 CPS1
    nsv5832710copy number variation2nstd209human GRCh38 chr2: 210,484,321-210,485,836 , GRCh37.p13 chr2: 211,349,045-211,350,560 CPS1
    nsv5832166copy number variation1nstd209human GRCh38 chr2: 210,529,073-210,530,172 , GRCh37.p13 chr2: 211,393,797-211,394,896 CPS1
    nsv5730927mobile element insertion1nstd211human GRCh38 chr2: 210,612,019-210,612,019 , GRCh37.p13 chr2: 211,476,743-211,476,743 CPS1
    nsv5726236mobile element insertion2nstd211human GRCh38 chr2: 210,619,107-210,619,107 , GRCh37.p13 chr2: 211,483,831-211,483,831 CPS1, CPS1-IT1
    nsv5720706mobile element insertion1nstd211human GRCh38 chr2: 210,622,121-210,622,121 , GRCh37.p13 chr2: 211,486,845-211,486,845 CPS1
    nsv5685311mobile element insertion2nstd211human GRCh38 chr2: 210,604,231-210,604,231 , GRCh37.p13 chr2: 211,468,955-211,468,955 CPS1
    nsv5684570mobile element insertion1nstd211human GRCh38 chr2: 210,566,698-210,566,698 , GRCh37.p13 chr2: 211,431,422-211,431,422 CPS1
    nsv5680878mobile element insertion2nstd211human GRCh38 chr2: 210,644,244-210,644,244 , GRCh37.p13 chr2: 211,508,968-211,508,968 CPS1
    nsv5680534mobile element insertion1nstd211human GRCh38 chr2: 210,525,353-210,525,353 , GRCh37.p13 chr2: 211,390,077-211,390,077 CPS1
    nsv5677501mobile element insertion2nstd211human GRCh38 chr2: 210,596,930-210,596,930 , GRCh37.p13 chr2: 211,461,654-211,461,654 CPS1
    nsv5673376copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,441,050-211,542,729 , GRCh38.p12 chr2: 210,576,326-210,678,005 CPS1, CPS1-IT1
    nsv5673215copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,421,433-211,421,593 , GRCh38.p12 chr2: 210,556,709-210,556,869 CPS1
    nsv5623365insertion1nstd207human GRCh38 chr2: 210,566,680-210,566,680 , GRCh37.p13 chr2: 211,431,404-211,431,404 CPS1
    nsv5583114copy number variation1nstd207human GRCh38 chr2: 210,512,939-210,513,032 , GRCh37.p13 chr2: 211,377,663-211,377,756 CPS1
    nsv5566442copy number variation1nstd207human GRCh38 chr2: 210,512,811-210,512,860 , GRCh37.p13 chr2: 211,377,535-211,377,584 CPS1
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