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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143822insertion1nstd232human GRCh37.p13 chr16: 75,668,192-75,668,192 , GRCh38.p12 chr16: 75,634,294-75,634,294 KARS1
    nsv7141614copy number variation1nstd232human GRCh37.p13 chr16: 75,665,486-75,665,588 , GRCh38.p12 chr16: 75,631,588-75,631,690 KARS1
    nsv7095097copy number variation1nstd102humanUncertain significance GRCh37 chr16: 75,589,682-75,690,509 , GRCh38.p12 chr16: 75,555,784-75,656,611 GABARAPL2, TMEM231, 3 more genes
    nsv7095043copy number variation1nstd102humanPathogenic GRCh37 chr16: 75,674,062-75,674,267 , GRCh38.p12 chr16: 75,640,164-75,640,369 KARS1
    nsv7072367inversion1nstd229human GRCh38 chr16: 75,592,487-75,707,026 , GRCh37.p13 chr16: 75,626,385-75,740,924 TERF2IP, ATP5PBP7, 5 more genes
    nsv7058675inversion1nstd229human GRCh38 chr16: 67,667,666-75,720,241 , GRCh37.p13 chr16: 67,701,569-75,754,139 RNU6-898P, DPEP2, 199 more genes
    nsv6998053copy number variation1nstd229human GRCh38 chr16: 75,164,533-76,191,896 , GRCh37.p13 chr16: 75,198,431-76,225,794 CTRB2, LOC105371344, 25 more genes
    nsv6997748copy number variation1nstd229human GRCh38 chr16: 75,530,336-75,837,326 , GRCh37.p13 chr16: 75,564,234-75,871,224 CPHXL, CPHXL2, 11 more genes
    nsv6993109copy number variation1nstd229human GRCh38 chr16: 75,592,401-75,687,000 , GRCh37.p13 chr16: 75,626,299-75,720,898 ADAT1, TERF2IP, 2 more genes
    nsv6992959copy number variation1nstd229human GRCh38 chr16: 75,622,154-75,635,166 , GRCh37.p13 chr16: 75,656,052-75,669,064 ADAT1, KARS1
    nsv6978828copy number variation1nstd229human GRCh38 chr16: 75,289,102-75,918,471 , GRCh37.p13 chr16: 75,323,000-75,952,369 KARS1, LOC105371348, 16 more genes
    nsv6978675copy number variation1nstd229human GRCh38 chr16: 75,642,887-75,642,967 , GRCh37.p13 chr16: 75,676,785-75,676,865 KARS1
    nsv6637595copy number variation1nstd102humanUncertain significance GRCh37 chr16: 73,673,334-78,137,887 , GRCh38.p12 chr16: 73,639,435-78,103,990 CNTNAP4, WDR59, 73 more genes
    nsv6637493copy number variation1nstd102humanUncertain significance GRCh37 chr16: 73,673,334-76,105,189 , GRCh38.p12 chr16: 73,639,435-76,071,291 LOC105371347, LOC105371344, 51 more genes
    nsv6637273copy number variation1nstd102humanUncertain significance GRCh37 chr16: 73,858,079-75,855,162 , GRCh38.p12 chr16: 73,824,180-75,821,264 LOC105371344, CTRB2, 46 more genes
    nsv6634465copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 71,610,276-90,354,753 , GRCh38.p12 chr16: 71,576,373-90,228,345 AP1G1, AFG3L1P, 349 more genes
    nsv6503491copy number variation1nstd223human GRCh38 chr16: 75,619,210-75,640,628 , GRCh37.p13 chr16: 75,653,108-75,674,526 ADAT1, KARS1
    nsv6503264copy number variation1nstd223human GRCh38 chr16: 75,643,932-75,645,769 , GRCh37.p13 chr16: 75,677,830-75,679,667 TERF2IP, KARS1
    nsv6496833copy number variation1nstd223human GRCh38 chr16: 75,624,375-75,634,810 , GRCh37.p13 chr16: 75,658,273-75,668,708 KARS1
    nsv6314964insertion1nstd102humanPathogenic GRCh37 chr16: 75,669,599-75,669,599 , GRCh38 chr16: 75,635,701-75,635,701 KARS1
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