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Items: 1 to 20 of 73

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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
    nsv5520467copy number variation1nstd206human GRCh38 chr19: 48,967,372-48,967,444 , GRCh37.p13 chr19: 49,470,629-49,470,701 GYS1, FTL
    nsv5359880translocation1nstd200human GRCh38 chr19: 48,963,718-48,963,718 , GRCh38 chr19: 48,963,790-48,963,790 , GRCh37.p13 chr19: 49,466,975-49,466,975 , GRCh37.p13 chr19: 49,467,047-49,467,047 FTL
    nsv5339461translocation1nstd200human GRCh37 chr19: 49,466,975-49,466,975 , GRCh37 chr19: 49,467,047-49,467,047 , GRCh38.p12 chr19: 48,963,718-48,963,718 , GRCh38.p12 chr19: 48,963,790-48,963,790 FTL
    nsv5292044copy number variation1nstd204human GRCh38.p13 chr19: 48,963,301-48,970,500 , GRCh37.p13 chr19: 49,466,558-49,473,757 FTL, GYS1
    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
    nsv4457853copy number variation1nstd102humanUncertain significance GRCh37 chr19: 48,119,589-49,595,956 , GRCh38.p12 chr19: 47,616,332-49,092,699 DHDH, GRIN2D, 94 more genes
    nsv4450645copy number variation1nstd102humanUncertain significance GRCh37 chr19: 49,469,518-49,470,012 , GRCh38 chr19: 48,966,261-48,966,755 FTL, GYS1
    nsv4376838copy number variation1nstd173human GRCh37 chr19: 48,462,617-51,107,899 , GRCh38.p12 chr19: 47,959,360-50,604,642 , LIN7B, 173 more genes
    nsv4371559copy number variation1nstd173human GRCh37 chr19: 49,456,001-49,535,375 , GRCh38.p12 chr19: 48,952,744-49,032,118 FTL, RUVBL2, 10 more genes
    nsv4336342sequence alteration1nstd166human GRCh37.p13 chr19: 49,452,478-49,469,152 , GRCh38.p12 chr19: 48,949,221-48,965,895 BAX, FTL
    nsv4321864inversion1nstd166human GRCh37.p13 chr19: 46,657,897-51,634,775 , GRCh38.p12 chr19: 46,154,640-51,131,518 , C5AR1, 288 more genes
    nsv4264189copy number variation1nstd166human GRCh37.p13 chr19: 49,470,629-49,470,701 , GRCh38.p12 chr19: 48,967,372-48,967,444 GYS1, FTL
    nsv4261536copy number variation1nstd166human GRCh37.p13 chr19: 49,462,328-49,469,101 , GRCh38.p12 chr19: 48,959,071-48,965,844 FTL, BAX
    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
    nsv3918983copy number variation1nstd102humanPathogenic GRCh38 chr19: 46,658,791-49,050,450 , GRCh37 chr19: 47,162,048-49,553,707 , NCBI36 chr19: 51,853,888-54,245,519 LOC105372432, FTL, 121 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
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