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Items: 1 to 20 of 181

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5933260copy number variation1nstd209human GRCh38 chr13: 27,655,859-27,655,946 , GRCh37.p13 chr13: 28,229,996-28,230,083 POLR1D
    nsv5656659insertion1nstd207human GRCh38 chr13: 27,641,023-27,641,023 , GRCh37.p13 chr13: 28,215,160-28,215,160 POLR1D
    nsv5653533insertion1nstd207human GRCh38 chr13: 27,641,093-27,641,093 , GRCh37.p13 chr13: 28,215,230-28,215,230 POLR1D
    nsv5645271insertion1nstd207human GRCh38 chr13: 27,655,875-27,655,875 , GRCh37.p13 chr13: 28,230,012-28,230,012 POLR1D
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5356715translocation1nstd200human GRCh38 chr13: 27,618,452-27,618,452 , GRCh38 chr13: 27,619,455-27,619,455 , GRCh37.p13 chr13: 28,193,592-28,193,592 , GRCh37.p13 chr13: 28,192,589-28,192,589 POLR1D, LNX2
    nsv4996703copy number variation1nstd200human GRCh38 chr13: 27,644,983-27,646,961 , GRCh37.p13 chr13: 28,219,120-28,221,098 POLR1D
    nsv4845295copy number variation1nstd200human GRCh37 chr13: 28,219,120-28,221,098 , GRCh38.p12 chr13: 27,644,983-27,646,961 POLR1D
    nsv4729520copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 23,775,339-30,534,624 , GRCh38.p12 chr13: 23,201,200-29,960,487 PARP4, ATP12A, 136 more genes
    nsv4675962copy number variation1nstd102humanPathogenic GRCh37 chr13: 28,159,780-28,289,790 , GRCh38.p12 chr13: 27,585,643-27,715,653 NPM1P4, LNX2, 1 more genes
    nsv4675905copy number variation1nstd102humanUncertain significance GRCh37 chr13: 28,083,408-28,591,050 , GRCh38.p12 chr13: 27,509,271-28,016,913 PDX1, PLUT, 14 more genes
    nsv4639893copy number variation2nstd186human GRCh37 chr13: 28,229,996-28,230,093 , GRCh38.p12 chr13: 27,655,859-27,655,956 POLR1D
    nsv4599348copy number variation1nstd183human GRCh37 chr13: 28,194,673-28,195,549 , GRCh38.p12 chr13: 27,620,536-27,621,412 POLR1D, LNX2
    nsv4599226copy number variation1nstd183human GRCh37 chr13: 28,194,659-28,194,717 , GRCh38.p12 chr13: 27,620,522-27,620,580 LNX2, POLR1D
    nsv4560294mobile element insertion1nstd166human GRCh37.p13 chr13: 28,204,752-28,204,752 , GRCh38.p12 chr13: 27,630,615-27,630,615 POLR1D
    nsv4555841insertion1nstd166human GRCh37.p13 chr13: 28,206,013-28,206,013 , GRCh38.p12 chr13: 27,631,876-27,631,876 POLR1D
    nsv4530649copy number variation1nstd166human GRCh37.p13 chr13: 28,229,996-28,230,093 , GRCh38.p12 chr13: 27,655,859-27,655,956 POLR1D
    nsv4516362mobile element insertion1nstd166human GRCh37.p13 chr13: 28,220,012-28,220,012 , GRCh38.p12 chr13: 27,645,875-27,645,875 POLR1D
    nsv4390560copy number variation1nstd171human GRCh37 chr13: 28,193,376-28,193,414 , GRCh38.p12 chr13: 27,619,239-27,619,277 POLR1D, LNX2
    nsv4217060copy number variation1nstd166human GRCh37.p13 chr13: 28,196,146-28,197,009 , GRCh38.p12 chr13: 27,622,009-27,622,872 POLR1D
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