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Items: 1 to 20 of 249

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv5973060insertion1nstd209human GRCh38 chr20: 62,830,658-62,830,658 , GRCh37.p13 chr20: 61,462,010-61,462,010 COL9A3
    nsv5952145copy number variation1nstd209human GRCh38 chr20: 62,815,870-62,815,931 , GRCh37.p13 chr20: 61,447,222-61,447,283 COL9A3
    nsv5671622insertion1nstd207human GRCh38 chr20: 62,824,279-62,824,279 , GRCh37.p13 chr20: 61,455,631-61,455,631 COL9A3
    nsv5671187insertion1nstd207human GRCh38 chr20: 62,825,154-62,825,154 , GRCh37.p13 chr20: 61,456,506-61,456,506 COL9A3
    nsv5671095insertion2nstd207human GRCh38 chr20: 62,825,130-62,825,130 , GRCh37.p13 chr20: 61,456,482-61,456,482 COL9A3
    nsv5669356insertion1nstd207human GRCh38 chr20: 62,824,141-62,824,141 , GRCh37.p13 chr20: 61,455,493-61,455,493 COL9A3
    nsv5665148insertion1nstd207human GRCh38 chr20: 62,830,651-62,830,651 , GRCh37.p13 chr20: 61,462,003-61,462,003 COL9A3
    nsv5596016copy number variation1nstd207human GRCh38 chr20: 62,824,023-62,824,134 , GRCh37.p13 chr20: 61,455,375-61,455,486 COL9A3
    nsv5585847copy number variation1nstd207human GRCh38 chr20: 62,839,641-62,839,736 , GRCh37.p13 chr20: 61,470,993-61,471,088 TCFL5, COL9A3
    nsv5527863copy number variation1nstd206human GRCh38 chr20: 62,837,597-62,837,907 , GRCh37.p13 chr20: 61,468,949-61,469,259 COL9A3
    nsv5381223copy number variation2nstd102humanUncertain significance GRCh37 chr20: 60,831,241-62,664,346 , GRCh38.p12 chr20: 62,256,185-64,032,993 KCNQ2-AS1, HAR1B, 100 more genes
    nsv5366198translocation1nstd200human GRCh38 chr20: 62,813,674-62,813,674 , GRCh38 chr20: 62,819,401-62,819,401 , GRCh37.p13 chr20: 61,450,753-61,450,753 , GRCh37.p13 chr20: 61,445,026-61,445,026 OGFR, COL9A3
    nsv5289201copy number variation1nstd204human GRCh38.p13 chr20: 62,058,601-62,909,300 , GRCh37.p13 chr20: 60,633,657-61,540,652 , LOC105372716, 47 more genes
    nsv5025814copy number variation1nstd200human GRCh38 chr20: 62,809,293-62,820,802 , GRCh37.p13 chr20: 61,440,645-61,452,154 COL9A3, OGFR
    nsv5022567copy number variation1nstd200human GRCh38 chr20: 62,837,835-62,839,411 , GRCh37.p13 chr20: 61,469,187-61,470,763 COL9A3, TCFL5
    nsv5022566copy number variation1nstd200human GRCh38 chr20: 62,833,698-62,834,855 , GRCh37.p13 chr20: 61,465,050-61,466,207 COL9A3
    nsv4865702copy number variation1nstd200human GRCh37 chr20: 61,440,645-61,452,154 , GRCh38.p12 chr20: 62,809,293-62,820,802 OGFR, COL9A3
    nsv4854169copy number variation1nstd200human GRCh37 chr20: 61,465,050-61,466,207 , GRCh38.p12 chr20: 62,833,698-62,834,855 COL9A3
    nsv4751696insertion1nstd199human GRCh37 chr20: 61,455,393-61,455,393 , GRCh38.p12 chr20: 62,824,041-62,824,041 COL9A3
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