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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6128431copy number variation1nstd186human GRCh37 chr19: 50,325,034-50,325,481 , GRCh38.p12 chr19: 49,821,777-49,822,224 MED25
    nsv5974464inversion1nstd209human GRCh38 chr19: 49,769,209-52,432,690 , GRCh37.p13 chr19: 50,272,466-52,935,943 , AP2A1, 172 more genes
    nsv5947278copy number variation1nstd209human GRCh38 chr19: 49,821,777-49,822,223 , GRCh37.p13 chr19: 50,325,034-50,325,480 MED25
    nsv5944129copy number variation1nstd209human GRCh38 chr19: 49,821,493-49,821,677 , GRCh37.p13 chr19: 50,324,750-50,324,934 MED25
    nsv5716819mobile element insertion1nstd211human GRCh38 chr19: 49,819,160-49,819,160 , GRCh37.p13 chr19: 50,322,417-50,322,417 MED25
    nsv5667352inversion1nstd207human GRCh38 chr19: 47,959,661-50,091,195 , GRCh37.p13 chr19: 48,462,918-50,594,452 , AP2A1, 145 more genes
    nsv5525195copy number variation1nstd206human GRCh38 chr19: 49,821,777-49,822,224 , GRCh37.p13 chr19: 50,325,034-50,325,481 MED25
    nsv5328120copy number variation1nstd204human GRCh38.p13 chr19: 49,821,800-49,822,259 , GRCh37.p13 chr19: 50,325,057-50,325,516 MED25
    nsv5295447copy number variation1nstd204human GRCh38.p13 chr19: 49,813,650-49,819,686 , GRCh37.p13 chr19: 50,316,907-50,322,943 FUZ, MED25
    nsv5290722copy number variation1nstd204human GRCh38.p13 chr19: 49,836,585-49,838,684 , GRCh37.p13 chr19: 50,339,842-50,341,941 MED25, PTOV1-AS1
    nsv5021009copy number variation1nstd200human GRCh38 chr19: 49,822,066-49,827,957 , GRCh37.p13 chr19: 50,325,323-50,331,214 MED25
    nsv4769828mobile element deletion1nstd200human GRCh37 chr19: 50,320,898-50,321,218 , GRCh38.p12 chr19: 49,817,641-49,817,961 FUZ, MED25
    nsv4739792copy number variation1nstd199human GRCh37 chr19: 50,325,959-50,326,060 , GRCh38.p12 chr19: 49,822,702-49,822,803 MED25
    nsv4729755copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,463,931-57,095,254 , GRCh38.p12 chr19: 47,960,674-56,583,886 SIGLEC5, MED25, 574 more genes
    nsv4727927copy number variation1nstd197human GRCh38.p12 chr19: 49,829,787-49,836,406 , GRCh37 chr19: 50,333,044-50,339,663 MED25, MIR6800
    nsv4706837copy number variation1nstd195human GRCh37 chr19: 50,325,034-50,325,035 , GRCh38.p12 chr19: 49,821,777-49,821,778 MED25
    nsv4685764copy number variation1nstd102humannot provided GRCh37 chr19: 47,939,842-54,626,871 , GRCh38.p12 chr19: 47,436,585-54,071,460 SNAR-G1, IRF3, 453 more genes
    nsv4676357copy number variation1nstd102humanPathogenic GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308 MIR4324, KLK9, 485 more genes
    nsv4629665copy number variation1nstd183human GRCh37 chr19: 50,338,999-50,339,446 , GRCh38.p12 chr19: 49,835,742-49,836,189 MED25
    nsv4627720copy number variation1nstd183human GRCh37 chr19: 50,316,189-50,322,419 , GRCh38.p12 chr19: 49,812,932-49,819,162 MED25, FUZ
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