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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
    nsv6112750copy number variation1nstd102humanPathogenic GRCh37 chr2: 81,209,244-86,688,030 , GRCh38.p12 chr2: 80,982,120-86,460,907 VAMP8, TMSB10, 86 more genes
    nsv5976333inversion1nstd209human GRCh38 chr2: 86,095,876-86,135,428 , GRCh37.p13 chr2: 86,322,999-86,362,551 POLR1A, PTCD3, 1 more genes
    nsv5961426insertion1nstd209human GRCh38 chr2: 86,097,214-86,097,214 , GRCh37.p13 chr2: 86,324,337-86,324,337 POLR1A
    nsv5874452copy number variation1nstd209human GRCh38 chr2: 86,041,149-86,041,211 , GRCh37.p13 chr2: 86,268,272-86,268,334 POLR1A
    nsv5605594insertion1nstd207human GRCh38 chr2: 86,056,331-86,056,331 , GRCh37.p13 chr2: 86,283,454-86,283,454 POLR1A
    nsv5571877copy number variation1nstd207human GRCh38 chr2: 86,041,149-86,041,211 , GRCh37.p13 chr2: 86,268,272-86,268,334 POLR1A
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5542880insertion1nstd206human GRCh38 chr2: 86,056,344-86,056,344 , GRCh37.p13 chr2: 86,283,467-86,283,467 POLR1A
    nsv5436982copy number variation1nstd206human GRCh38 chr2: 85,539,948-89,142,574 , GRCh37.p13 chr2: 85,767,071-89,442,057 , IGKV2-18, 129 more genes
    nsv5436299copy number variation1nstd206human GRCh38 chr2: 86,055,590-86,283,810 , GRCh37.p13 chr2: 86,282,713-86,510,933 IMMT, POLR1A, 5 more genes
    nsv5343251translocation1nstd200human GRCh37 chr2: 86,288,917-86,288,917 , GRCh37 chr2: 86,288,470-86,288,470 , GRCh38.p12 chr2: 86,061,794-86,061,794 , GRCh38.p12 chr2: 86,061,347-86,061,347 POLR1A
    nsv5078721mobile element insertion1nstd203human GRCh38 chr2: 86,056,364-86,056,371 , GRCh37.p13 chr2: 86,283,487-86,283,494 POLR1A
    nsv5075947mobile element insertion1nstd203human GRCh38 chr2: 86,056,323-86,056,365 , GRCh37.p13 chr2: 86,283,446-86,283,488 POLR1A
    nsv5073599mobile element insertion1nstd203human GRCh38 chr2: 86,056,352-86,056,364 , GRCh37.p13 chr2: 86,283,475-86,283,487 POLR1A
    nsv5073224mobile element insertion1nstd203human GRCh38 chr2: 86,097,218-86,097,242 , GRCh37.p13 chr2: 86,324,341-86,324,365 POLR1A
    nsv5073030mobile element insertion1nstd203human GRCh38 chr2: 86,056,365-86,056,382 , GRCh37.p13 chr2: 86,283,488-86,283,505 POLR1A
    nsv5070924mobile element insertion1nstd203human GRCh38 chr2: 86,056,324-86,056,365 , GRCh37.p13 chr2: 86,283,447-86,283,488 POLR1A
    nsv5070666mobile element insertion1nstd203human GRCh38 chr2: 86,063,335-86,063,362 , GRCh37.p13 chr2: 86,290,458-86,290,485 POLR1A
    nsv5070108mobile element insertion1nstd203human GRCh38 chr2: 86,097,214-86,097,242 , GRCh37.p13 chr2: 86,324,337-86,324,365 POLR1A
    nsv5069932mobile element insertion1nstd203human GRCh38 chr2: 86,056,281-86,056,365 , GRCh37.p13 chr2: 86,283,404-86,283,488 POLR1A
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