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Items: 1 to 20 of 287

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6115037mobile element insertion1nstd186human GRCh37 chr14: 61,498,431-61,498,482 , GRCh38.p12 chr14: 61,031,713-61,031,764 SLC38A6, LOC101927756
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5967970insertion1nstd209human GRCh38 chr14: 60,984,478-60,984,478 , GRCh37.p13 chr14: 61,451,196-61,451,196 SLC38A6
    nsv5712010mobile element insertion2nstd211human GRCh38 chr14: 60,984,490-60,984,490 , GRCh37.p13 chr14: 61,451,208-61,451,208 SLC38A6
    nsv5703645mobile element insertion2nstd211human GRCh38 chr14: 61,031,713-61,031,713 , GRCh37.p13 chr14: 61,498,431-61,498,431 SLC38A6, LOC101927756
    nsv5662411insertion1nstd207human GRCh38 chr14: 61,081,181-61,081,181 , GRCh37.p13 chr14: 61,547,899-61,547,899 SLC38A6
    nsv5649803insertion1nstd207human GRCh38 chr14: 61,031,696-61,031,696 , GRCh37.p13 chr14: 61,498,414-61,498,414 SLC38A6, LOC101927756
    nsv5507321copy number variation1nstd206human GRCh38 chr14: 61,081,181-61,081,313 , GRCh37.p13 chr14: 61,547,899-61,548,031 SLC38A6
    nsv5506653copy number variation1nstd206human GRCh38 chr14: 61,022,105-61,022,561 , GRCh37.p13 chr14: 61,488,823-61,489,279 SLC38A6
    nsv5505722copy number variation1nstd206human GRCh38 chr14: 60,985,781-60,988,387 , GRCh37.p13 chr14: 61,452,499-61,455,105 SLC38A6
    nsv5501540copy number variation1nstd206human GRCh38 chr14: 61,039,820-61,050,090 , GRCh37.p13 chr14: 61,506,538-61,516,808 SLC38A6, LOC101927756
    nsv5432868mobile element insertion1nstd206human GRCh38 chr14: 60,984,490-60,984,541 , GRCh37.p13 chr14: 61,451,208-61,451,259 SLC38A6
    nsv5429378mobile element insertion1nstd206human GRCh38 chr14: 61,031,713-61,031,764 , GRCh37.p13 chr14: 61,498,431-61,498,482 SLC38A6, LOC101927756
    nsv5392603copy number variation3nstd186human GRCh37 chr14: 61,547,899-61,548,031 , GRCh38.p12 chr14: 61,081,181-61,081,313 SLC38A6
    nsv5357307translocation1nstd200human GRCh38 chr14: 61,077,799-61,077,799 , GRCh38 chr14: 61,077,591-61,077,591 , GRCh37.p13 chr14: 61,544,309-61,544,309 , GRCh37.p13 chr14: 61,544,517-61,544,517 SLC38A6
    nsv5357306translocation1nstd200human GRCh38 chr14: 61,022,105-61,022,105 , GRCh38 chr14: 61,022,561-61,022,561 , GRCh37.p13 chr14: 61,488,823-61,488,823 , GRCh37.p13 chr14: 61,489,279-61,489,279 SLC38A6
    nsv5302085copy number variation1nstd204human GRCh38.p13 chr14: 61,081,160-61,081,341 , GRCh37.p13 chr14: 61,547,878-61,548,059 SLC38A6
    nsv5277399copy number variation1nstd204human GRCh38.p13 chr14: 60,975,807-61,002,287 , GRCh37.p13 chr14: 61,442,525-61,469,005 SLC38A6, TRMT5
    nsv5268648copy number variation1nstd204human GRCh38.p13 chr14: 61,016,750-61,046,333 , GRCh37.p13 chr14: 61,483,468-61,513,051 SLC38A6, LOC101927756
    nsv5264058copy number variation1nstd204human GRCh38.p13 chr14: 60,605,501-61,055,200 , GRCh37.p13 chr14: 61,072,219-61,521,918 RNU6-398P, SRMP2, 9 more genes
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