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Items: 1 to 20 of 521

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6128203insertion1nstd186human GRCh37 chr2: 228,023,490-228,023,490 , GRCh38.p12 chr2: 227,158,774-227,158,774 COL4A4
    nsv6127199insertion1nstd186human GRCh37 chr2: 227,910,688-227,910,688 , GRCh38.p12 chr2: 227,045,972-227,045,972 COL4A4
    nsv5961212insertion1nstd209human GRCh38 chr2: 227,045,973-227,045,973 , GRCh37.p13 chr2: 227,910,689-227,910,689 COL4A4
    nsv5958082insertion1nstd209human GRCh38 chr2: 227,158,761-227,158,761 , GRCh37.p13 chr2: 228,023,477-228,023,477 COL4A4
    nsv5906544copy number variation1nstd209human GRCh38 chr2: 227,155,070-227,158,079 , GRCh37.p13 chr2: 228,019,786-228,022,795 COL4A4
    nsv5904629copy number variation1nstd209human GRCh38 chr2: 227,154,884-227,154,952 , GRCh37.p13 chr2: 228,019,600-228,019,668 COL4A4
    nsv5901453copy number variation1nstd209human GRCh38 chr2: 227,106,649-227,107,840 , GRCh37.p13 chr2: 227,971,365-227,972,556 COL4A4
    nsv5897055copy number variation1nstd209human GRCh38 chr2: 227,046,239-227,047,385 , GRCh37.p13 chr2: 227,910,955-227,912,101 COL4A4
    nsv5893268copy number variation1nstd209human GRCh38 chr2: 227,045,810-227,045,871 , GRCh37.p13 chr2: 227,910,526-227,910,587 COL4A4
    nsv5832762copy number variation1nstd209human GRCh38 chr2: 227,106,658-227,107,757 , GRCh37.p13 chr2: 227,971,374-227,972,473 COL4A4
    nsv5832524copy number variation1nstd209human GRCh38 chr2: 227,155,049-227,158,148 , GRCh37.p13 chr2: 228,019,765-228,022,864 COL4A4
    nsv5832479copy number variation1nstd209human GRCh38 chr2: 227,046,270-227,047,369 , GRCh37.p13 chr2: 227,910,986-227,912,085 COL4A4
    nsv5692305mobile element insertion2nstd211human GRCh38 chr2: 227,081,754-227,081,754 , GRCh37.p13 chr2: 227,946,470-227,946,470 COL4A4
    nsv5684881mobile element insertion2nstd211human GRCh38 chr2: 227,158,774-227,158,774 , GRCh37.p13 chr2: 228,023,490-228,023,490 COL4A4
    nsv5679940mobile element insertion1nstd211human GRCh38 chr2: 226,969,914-226,969,914 , GRCh37.p13 chr2: 227,834,630-227,834,630 RHBDD1, COL4A4
    nsv5673534copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 227,946,821-227,964,415 , GRCh38.p12 chr2: 227,082,105-227,099,699 COL4A4
    nsv5622766insertion1nstd207human GRCh38 chr2: 227,055,348-227,055,348 , GRCh37.p13 chr2: 227,920,064-227,920,064 COL4A4
    nsv5621263insertion1nstd207human GRCh38 chr2: 227,041,848-227,041,848 , GRCh37.p13 chr2: 227,906,564-227,906,564 COL4A4
    nsv5618209insertion1nstd207human GRCh38 chr2: 227,045,808-227,045,808 , GRCh37.p13 chr2: 227,910,524-227,910,524 COL4A4
    nsv5615100insertion1nstd207human GRCh38 chr2: 227,158,761-227,158,761 , GRCh37.p13 chr2: 228,023,477-228,023,477 COL4A4
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