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Items: 1 to 20 of 309

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112755copy number variation1nstd102humanPathogenic GRCh37 chr12: 65,251,705-75,263,379 , GRCh38.p12 chr12: 64,857,925-74,869,599 LINC02421, TBC1D15, 144 more genes
    nsv5976609insertion1nstd209human GRCh38 chr12: 65,838,998-65,838,998 , GRCh37.p13 chr12: 66,232,778-66,232,778 HMGA2
    nsv5942149copy number variation1nstd209human GRCh38 chr12: 65,911,234-65,914,934 , GRCh37.p13 chr12: 66,305,014-66,308,714 HMGA2
    nsv5865997copy number variation1nstd209human GRCh38 chr12: 65,911,208-65,914,983 , GRCh37.p13 chr12: 66,304,988-66,308,763 HMGA2
    nsv5500801copy number variation1nstd206human GRCh38 chr12: 65,825,445-65,825,530 , GRCh37.p13 chr12: 66,219,225-66,219,310 HMGA2, RPSAP52
    nsv5496208copy number variation1nstd206human GRCh38 chr12: 65,912,668-65,919,141 , GRCh37.p13 chr12: 66,306,448-66,312,921 HMGA2
    nsv5495745copy number variation1nstd206human GRCh38 chr12: 65,911,239-65,914,935 , GRCh37.p13 chr12: 66,305,019-66,308,715 HMGA2
    nsv5356045translocation1nstd200human GRCh38 chr12: 65,894,264-65,894,264 , GRCh38 chr12: 65,889,106-65,889,106 , GRCh37.p13 chr12: 66,288,044-66,288,044 , GRCh37.p13 chr12: 66,282,886-66,282,886 HMGA2
    nsv5279446copy number variation1nstd204human GRCh38.p13 chr12: 65,956,800-65,959,024 , GRCh37.p13 chr12: 66,350,580-66,352,804 HMGA2
    nsv5273102copy number variation1nstd204human GRCh38.p13 chr12: 65,828,301-65,834,400 , GRCh37.p13 chr12: 66,222,081-66,228,180 HMGA2
    nsv5209509mobile element deletion1nstd204human GRCh38.p13 chr12: 65,888,544-65,888,869 , GRCh37.p13 chr12: 66,282,324-66,282,649 HMGA2
    nsv5187057mobile element insertion1nstd203human GRCh38 chr12: 65,936,332-65,936,348 , GRCh37.p13 chr12: 66,330,112-66,330,128 HMGA2
    nsv5137927mobile element insertion1nstd203human GRCh38 chr12: 65,838,963-65,839,010 , GRCh37.p13 chr12: 66,232,743-66,232,790 HMGA2
    nsv5133529mobile element insertion1nstd203human GRCh38 chr12: 65,839,010-65,839,010 , GRCh37.p13 chr12: 66,232,790-66,232,790 HMGA2
    nsv5132116mobile element insertion1nstd203human GRCh38 chr12: 65,838,969-65,839,010 , GRCh37.p13 chr12: 66,232,749-66,232,790 HMGA2
    nsv5126031mobile element insertion1nstd203human GRCh38 chr12: 65,822,678-65,822,678 , GRCh37.p13 chr12: 66,216,458-66,216,458 RPSAP52, HMGA2
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv5008595copy number variation1nstd200human GRCh38 chr12: 65,911,245-65,926,981 , GRCh37.p13 chr12: 66,305,025-66,320,761 HMGA2
    nsv4995025copy number variation1nstd200human GRCh38 chr12: 65,953,910-65,954,072 , GRCh37.p13 chr12: 66,347,690-66,347,852 HMGA2
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