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Items: 1 to 20 of 225

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5865078copy number variation1nstd209human GRCh38 chr12: 121,353,053-121,354,854 , GRCh37.p13 chr12|NW_004504303.2: 29,056-30,857 , GRCh37.p13 chr12: 121,790,856-121,792,657 ANAPC5
    nsv5860225copy number variation1nstd209human GRCh38 chr12: 121,315,622-121,317,225 , GRCh37.p13 chr12: 121,753,425-121,755,028 ANAPC5
    nsv5855793copy number variation1nstd209human GRCh38 chr12: 121,343,102-121,344,301 , GRCh37.p13 chr12: 121,780,905-121,782,104 , GRCh37.p13 chr12|NW_004504303.2: 19,105-20,304 ANAPC5
    nsv5853444copy number variation1nstd209human GRCh38 chr12: 121,323,623-121,324,922 , GRCh37.p13 chr12|NW_004504303.2: 1-925 , GRCh37.p13 chr12: 121,761,801-121,762,725 ANAPC5
    nsv5720319mobile element insertion1nstd211human GRCh38 chr12: 121,349,639-121,349,639 , GRCh37.p13 chr12: 121,787,442-121,787,442 , GRCh37.p13 chr12|NW_004504303.2: 25,642-25,642 ANAPC5
    nsv5562620mobile element insertion1nstd206human GRCh38 chr12: 121,349,653-121,349,690 , GRCh37.p13 chr12: 121,787,456-121,787,493 , GRCh37.p13 chr12|NW_004504303.2: 25,656-25,693 ANAPC5
    nsv5555463sequence alteration1nstd206human GRCh38 chr12: 120,561,097-121,398,447 , GRCh37.p13 chr12: 120,998,900-121,761,800 P2RX7, OASL, 27 more genes
    nsv5510883copy number variation1nstd206human GRCh38 chr12: 121,353,740-121,362,507 , GRCh37.p13 chr12|NW_004504303.2: 29,743-38,510 , GRCh37.p13 chr12: 121,791,543-121,800,310 ANAPC5
    nsv5502895copy number variation1nstd206human GRCh38 chr12: 121,313,179-121,314,201 , GRCh37.p13 chr12: 121,750,982-121,752,004 ANAPC5
    nsv5496239copy number variation1nstd206human GRCh38 chr12: 121,332,913-121,333,058 , GRCh37.p13 chr12: 121,770,716-121,770,861 , GRCh37.p13 chr12|NW_004504303.2: 8,916-9,061 ANAPC5
    nsv5495421copy number variation1nstd206human GRCh38 chr12: 121,301,596-121,307,004 , GRCh37.p13 chr12: 121,739,399-121,744,807 ANAPC5
    nsv5365247translocation1nstd200human GRCh38 chr12: 121,637,834-121,637,834 , GRCh38 chr12: 121,317,006-121,317,006 , GRCh37.p13 chr12: 121,754,809-121,754,809 , GRCh37.p13 chr12|NW_004504303.2: 313,838-313,838 ANAPC5, ORAI1
    nsv5310053copy number variation1nstd204human GRCh38.p13 chr12: 121,329,022-121,335,748 , GRCh37.p13 chr12|NW_004504303.2: 5,025-11,751 , GRCh37.p13 chr12: 121,766,825-121,773,551 ANAPC5
    nsv5308179copy number variation1nstd204human GRCh38.p13 chr12: 121,322,551-121,324,036 , GRCh37.p13 chr12: 121,760,354-121,761,803 ANAPC5
    nsv5277804copy number variation1nstd204human GRCh38.p13 chr12: 121,329,323-121,335,257 , GRCh37.p13 chr12|NW_004504303.2: 5,326-11,260 , GRCh37.p13 chr12: 121,767,126-121,773,060 ANAPC5
    nsv5268306copy number variation1nstd204human GRCh38.p13 chr12: 121,183,901-121,747,200 , GRCh37.p13 chr12: 121,621,704-122,185,106 , GRCh37.p13 chr12|NW_004504303.2: 1-334,922 , TMEM120B, 13 more genes
    nsv5182359mobile element insertion1nstd203human GRCh38 chr12: 121,349,639-121,349,653 , GRCh37.p13 chr12: 121,787,442-121,787,456 , GRCh37.p13 chr12|NW_004504303.2: 25,642-25,656 ANAPC5
    nsv4996027copy number variation1nstd200human GRCh38 chr12: 121,313,168-121,314,202 , GRCh37.p13 chr12: 121,750,971-121,752,005 ANAPC5
    nsv4996026copy number variation1nstd200human GRCh38 chr12: 121,305,263-121,309,371 , GRCh37.p13 chr12: 121,743,066-121,747,174 ANAPC5
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