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Items: 1 to 20 of 71

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5667352inversion1nstd207human GRCh38 chr19: 47,959,661-50,091,195 , GRCh37.p13 chr19: 48,462,918-50,594,452 , AP2A1, 145 more genes
    nsv5529610copy number variation1nstd206human GRCh38 chr19: 49,417,698-49,422,386 , GRCh37.p13 chr19: 49,920,955-49,925,643 KASH5, PTH2
    nsv5024811copy number variation1nstd200human GRCh38 chr19: 49,416,314-49,424,496 , GRCh37.p13 chr19: 49,919,571-49,927,753 KASH5, GFY, 1 more genes
    nsv5020989copy number variation1nstd200human GRCh38 chr19: 49,423,347-49,426,245 , GRCh37.p13 chr19: 49,926,604-49,929,502 GFY, PTH2
    nsv5020988copy number variation1nstd200human GRCh38 chr19: 49,422,309-49,422,412 , GRCh37.p13 chr19: 49,925,566-49,925,669 PTH2
    nsv4865257copy number variation1nstd200human GRCh37 chr19: 49,919,542-49,927,783 , GRCh38.p12 chr19: 49,416,285-49,424,526 KASH5, GFY, 1 more genes
    nsv4853325copy number variation1nstd200human GRCh37 chr19: 49,920,955-49,925,643 , GRCh38.p12 chr19: 49,417,698-49,422,386 PTH2, KASH5
    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
    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
    nsv4457465copy number variation1nstd102humanUncertain significance GRCh37 chr19: 49,600,909-51,366,070 , GRCh38.p12 chr19: 49,097,652-50,862,814 MED25, EMC10, 117 more genes
    nsv4376838copy number variation1nstd173human GRCh37 chr19: 48,462,617-51,107,899 , GRCh38.p12 chr19: 47,959,360-50,604,642 , LIN7B, 173 more genes
    nsv4321864inversion1nstd166human GRCh37.p13 chr19: 46,657,897-51,634,775 , GRCh38.p12 chr19: 46,154,640-51,131,518 , C5AR1, 288 more genes
    nsv4255985copy number variation1nstd166human GRCh37.p13 chr19: 49,926,605-49,929,502 , GRCh38.p12 chr19: 49,423,348-49,426,245 PTH2, GFY
    nsv3965861insertion1nstd168human GRCh38 chr19: 49,417,314-49,427,499 , GRCh37.p13 chr19: 49,920,571-49,930,756 SLC17A7, PTH2, 2 more genes
    nsv3919076copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,432,832-59,083,573 , NCBI36 chr19: 53,124,644-63,775,385 , GRCh38 chr19: 47,929,575-58,572,206 KCNA7, ZNF28, 697 more genes
    nsv3911950copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,411,797-59,051,332 , NCBI36 chr19: 53,103,609-63,743,144 , GRCh38 chr19: 47,908,540-58,539,965 LOC107987270, MIR6799, 694 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 ZNF321P, ZNF861P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 BABAM1, BEST2, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 LENG8, SYDE1, 2408 more genes
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