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Items: 1 to 20 of 204

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5943636copy number variation1nstd209human GRCh38 chr12: 120,523,267-120,524,604 , GRCh37.p13 chr12: 120,961,070-120,962,407 RPL29P24, COQ5
    nsv5941359copy number variation1nstd209human GRCh38 chr12: 120,513,432-120,517,635 , GRCh37.p13 chr12: 120,951,235-120,955,438 COQ5
    nsv5932151copy number variation1nstd209human GRCh38 chr12: 120,532,010-120,532,063 , GRCh37.p13 chr12: 120,969,813-120,969,866 COQ5
    nsv5863858copy number variation1nstd209human GRCh38 chr12: 120,523,184-120,524,583 , GRCh37.p13 chr12: 120,960,987-120,962,386 RPL29P24, COQ5
    nsv5862981copy number variation1nstd209human GRCh38 chr12: 120,508,127-120,509,426 , GRCh37.p13 chr12: 120,945,930-120,947,229 COQ5
    nsv5854081copy number variation2nstd209human GRCh38 chr12: 120,513,834-120,515,071 , GRCh37.p13 chr12: 120,951,637-120,952,874 COQ5
    nsv5715738mobile element insertion1nstd211human GRCh38 chr12: 120,528,529-120,528,529 , GRCh37.p13 chr12: 120,966,332-120,966,332 COQ5
    nsv5498415copy number variation1nstd206human GRCh38 chr12: 120,507,053-120,508,186 , GRCh37.p13 chr12: 120,944,856-120,945,989 COQ5
    nsv5496314copy number variation1nstd206human GRCh38 chr12: 120,527,924-120,528,038 , GRCh37.p13 chr12: 120,965,727-120,965,841 COQ5
    nsv5273593copy number variation1nstd204human GRCh38.p13 chr12: 120,426,401-120,552,600 , GRCh37.p13 chr12: 120,864,204-120,990,403 , SRSF9, 9 more genes
    nsv5059956copy number variation1nstd102humanPathogenic GRCh37 chr12: 120,940,097-120,940,098 , GRCh38 chr12: 120,502,294-120,502,295 COQ5
    nsv4995980copy number variation1nstd200human GRCh38 chr12: 120,521,928-120,525,789 , GRCh37.p13 chr12: 120,959,731-120,963,592 RPL29P24, COQ5
    nsv4995979copy number variation1nstd200human GRCh38 chr12: 120,520,591-120,524,438 , GRCh37.p13 chr12: 120,958,394-120,962,241 COQ5, RPL29P24
    nsv4995978copy number variation1nstd200human GRCh38 chr12: 120,511,105-120,512,028 , GRCh37.p13 chr12: 120,948,908-120,949,831 COQ5
    nsv4995977copy number variation1nstd200human GRCh38 chr12: 120,507,007-120,508,161 , GRCh37.p13 chr12: 120,944,810-120,945,964 COQ5
    nsv4995976copy number variation1nstd200human GRCh38 chr12: 120,505,503-120,507,317 , GRCh37.p13 chr12: 120,943,306-120,945,120 COQ5
    nsv4847919copy number variation1nstd200human GRCh37 chr12: 120,961,039-120,962,438 , GRCh38.p12 chr12: 120,523,236-120,524,635 RPL29P24, COQ5
    nsv4843769copy number variation1nstd200human GRCh37 chr12: 120,959,723-120,963,600 , GRCh38.p12 chr12: 120,521,920-120,525,797 RPL29P24, COQ5
    nsv4841802copy number variation1nstd200human GRCh37 chr12: 120,951,266-120,955,414 , GRCh38.p12 chr12: 120,513,463-120,517,611 COQ5
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