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Items: 1 to 20 of 274

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5971424inversion1nstd209human GRCh38 chr1: 112,663,483-112,663,915 , GRCh37.p13 chr1: 113,206,105-113,206,537 CAPZA1
    nsv5884318copy number variation1nstd209human GRCh38 chr1: 112,663,187-112,663,311 , GRCh37.p13 chr1: 113,205,809-113,205,933 CAPZA1
    nsv5827920copy number variation1nstd209human GRCh38 chr1: 112,663,441-112,664,740 , GRCh37.p13 chr1: 113,206,063-113,207,362 CAPZA1
    nsv5714380mobile element insertion2nstd211human GRCh38 chr1: 112,636,616-112,636,616 , GRCh37.p13 chr1: 113,179,238-113,179,238 CAPZA1
    nsv5690871mobile element insertion1nstd211human GRCh38 chr1: 112,656,466-112,656,466 , GRCh37.p13 chr1: 113,199,088-113,199,088 CAPZA1
    nsv5608384insertion1nstd207human GRCh38 chr1: 112,636,598-112,636,598 , GRCh37.p13 chr1: 113,179,220-113,179,220 CAPZA1
    nsv5569669copy number variation1nstd207human GRCh38 chr1: 112,640,280-112,640,562 , GRCh37.p13 chr1: 113,182,902-113,183,184 CAPZA1
    nsv5557062inversion1nstd206human GRCh38 chr1: 112,663,463-112,663,936 , GRCh37.p13 chr1: 113,206,085-113,206,558 CAPZA1
    nsv5556936sequence alteration1nstd206human GRCh38 chr1: 112,663,483-112,664,719 , GRCh37.p13 chr1: 113,206,105-113,207,341 CAPZA1
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5425323copy number variation1nstd206human GRCh38 chr1: 112,645,236-112,645,307 , GRCh37.p13 chr1: 113,187,858-113,187,929 CAPZA1
    nsv5416512copy number variation1nstd206human GRCh38 chr1: 112,663,574-112,664,645 , GRCh37.p13 chr1: 113,206,196-113,207,267 CAPZA1
    nsv5414651copy number variation1nstd206human GRCh38 chr1: 112,656,277-112,656,482 , GRCh37.p13 chr1: 113,198,899-113,199,104 CAPZA1
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5363290translocation1nstd200human GRCh38 chr1: 112,671,615-112,671,615 , GRCh38 chr19: 24,136,769-24,136,769 , GRCh37.p13 chr1: 113,214,237-113,214,237 , GRCh37.p13 chr19: 24,319,571-24,319,571 CAPZA1
    nsv5343394translocation1nstd200human GRCh37 chr1: 113,207,315-113,207,315 , GRCh37 chr1: 113,206,295-113,206,295 , GRCh38.p12 chr1: 112,663,673-112,663,673 , GRCh38.p12 chr1: 112,664,693-112,664,693 CAPZA1
    nsv5336758translocation1nstd200human GRCh37 chr19: 24,319,571-24,319,571 , GRCh37 chr1: 113,214,237-113,214,237 , GRCh38.p12 chr1: 112,671,615-112,671,615 , GRCh38.p12 chr19: 24,136,769-24,136,769 CAPZA1
    nsv5327095translocation1nstd204human GRCh38.p13 chr1: 112,663,916-112,663,916 , GRCh38.p13 chr1: 112,663,483-112,663,483 , GRCh37.p13 chr1: 113,206,105-113,206,105 , GRCh37.p13 chr1: 113,206,538-113,206,538 CAPZA1
    nsv5294065copy number variation1nstd204human GRCh38.p13 chr1: 112,663,472-112,664,702 , GRCh37.p13 chr1: 113,206,094-113,207,324 CAPZA1
    nsv5194181mobile element insertion1nstd203human GRCh38 chr1: 112,628,881-112,628,881 , GRCh37.p13 chr1: 113,171,503-113,171,503 CAPZA1
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