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Items: 1 to 20 of 263

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5960392copy number variation1nstd209human GRCh38 chr22: 44,198,859-44,198,970 , GRCh37.p13 chr22: 44,594,739-44,594,850 PARVG
    nsv5954669copy number variation1nstd209human GRCh38 chr22: 44,169,061-44,170,142 , GRCh37.p13 chr22: 44,564,941-44,566,022 PARVB, PARVG
    nsv5880225copy number variation1nstd209human GRCh38 chr22: 44,169,058-44,170,157 , GRCh37.p13 chr22: 44,564,938-44,566,037 PARVG, PARVB
    nsv5710321mobile element insertion2nstd211human GRCh38 chr22: 44,176,598-44,176,598 , GRCh37.p13 chr22: 44,572,478-44,572,478 PARVG
    nsv5671536insertion1nstd207human GRCh38 chr22: 44,198,945-44,198,945 , GRCh37.p13 chr22: 44,594,825-44,594,825 PARVG
    nsv5671153insertion1nstd207human GRCh38 chr22: 44,198,961-44,198,961 , GRCh37.p13 chr22: 44,594,841-44,594,841 PARVG
    nsv5591535copy number variation1nstd207human GRCh38 chr22: 44,169,061-44,170,142 , GRCh37.p13 chr22: 44,564,941-44,566,022 PARVG, PARVB
    nsv5584539copy number variation1nstd207human GRCh38 chr22: 44,207,295-44,207,368 , GRCh37.p13 chr22: 44,603,175-44,603,248 PARVG
    nsv5552707copy number variation1nstd206human GRCh38 chr22: 44,175,938-44,176,008 , GRCh37.p13 chr22: 44,571,818-44,571,888 PARVG
    nsv5550818copy number variation1nstd206human GRCh38 chr22: 44,169,066-44,170,143 , GRCh37.p13 chr22: 44,564,946-44,566,023 PARVG, PARVB
    nsv5550027copy number variation1nstd206human GRCh38 chr22: 44,172,075-44,172,137 , GRCh37.p13 chr22: 44,567,955-44,568,017 PARVG, PARVB
    nsv5549447copy number variation1nstd206human GRCh38 chr22: 44,168,098-44,172,142 , GRCh37.p13 chr22: 44,563,978-44,568,022 PARVG, PARVB
    nsv5545408copy number variation1nstd206human GRCh38 chr22: 44,194,758-44,194,838 , GRCh37.p13 chr22: 44,590,638-44,590,718 PARVG
    nsv5426326mobile element insertion1nstd206human GRCh38 chr22: 44,176,598-44,176,649 , GRCh37.p13 chr22: 44,572,478-44,572,529 PARVG
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5360625translocation1nstd200human GRCh38 chr22: 44,172,142-44,172,142 , GRCh38 chr22: 44,168,098-44,168,098 , GRCh37.p13 chr22: 44,563,978-44,563,978 , GRCh37.p13 chr22: 44,568,022-44,568,022 PARVB, PARVG
    nsv5331870translocation1nstd200human GRCh37 chr22: 44,568,022-44,568,022 , GRCh37 chr22: 44,563,978-44,563,978 , GRCh38.p12 chr22: 44,172,142-44,172,142 , GRCh38.p12 chr22: 44,168,098-44,168,098 PARVB, PARVG
    nsv5327551copy number variation1nstd204human GRCh38.p13 chr22: 43,917,101-44,419,867 , GRCh37.p13 chr22: 44,312,981-44,815,747 , PARVB, 8 more genes
    nsv5323340copy number variation1nstd204human GRCh37.p13 chr22: 44,564,943-44,566,026 , GRCh38.p13 chr22: 44,169,063-44,170,146 PARVG, PARVB
    nsv5320634copy number variation1nstd204human GRCh37.p13 chr22: 44,563,976-44,568,023 , GRCh38.p13 chr22: 44,168,096-44,172,143 PARVB, PARVG
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