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Items: 1 to 20 of 85

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095216copy number variation1nstd102humanUncertain significance GRCh37 chr19: 49,468,350-49,481,434 , GRCh38.p12 chr19: 48,965,093-48,978,177 FTL, GYS1
    nsv7075539inversion1nstd229human GRCh38 chr19: 48,377,786-50,073,353 , GRCh37.p13 chr19: 48,881,043-50,576,610 SNRNP70, PTOV1, 126 more genes
    nsv7074377inversion1nstd229human GRCh38 chr19: 41,965,396-49,981,454 , GRCh37.p13 chr19: 42,514,712-50,484,711 IGFL1, SYMPK, 400 more genes
    nsv7073334inversion1nstd229human GRCh38 chr19: 48,958,315-49,037,642 , GRCh37.p13 chr19: 49,461,572-49,540,899 SNAR-G2, RUVBL2, 13 more genes
    nsv7073220inversion1nstd229human GRCh38 chr19: 45,719,988-49,018,157 , GRCh37.p13 chr19: 46,223,246-49,521,414 RUVBL2, NTN5, 150 more genes
    nsv7064020inversion1nstd229human GRCh38 chr19: 48,004,601-50,148,757 , GRCh37.p13 chr19: 48,507,858-50,652,014 TEAD2, LHB, 155 more genes
    nsv6598038inversion1nstd223human GRCh38 chr19: 45,719,988-49,018,154 , GRCh37.p13 chr19: 46,223,246-49,521,411 PLEKHA4, GAPDHP38, 150 more genes
    nsv6595834inversion1nstd223human GRCh38 chr19: 48,004,600-50,148,749 , GRCh37.p13 chr19: 48,507,857-50,652,006 KDELR1, VRK3, 155 more genes
    nsv6133704copy number variation1nstd213human GRCh37 chr19: 45,030,000-55,230,001 , GRCh38.p12 chr19: 44,525,967-54,071,460 AP2A1, APOC1, 582 more genes
    nsv6133703copy number variation1nstd213human GRCh37 chr19: 41,220,000-49,640,001 , GRCh38.p12 chr19: 40,714,095-49,136,744 , APOC1, 402 more genes
    nsv6133474copy number variation1nstd213human GRCh37 chr19: 42,350,000-49,650,001 , GRCh38.p12 chr19: 41,845,937-49,146,744 , APOC1, 343 more genes
    nsv6110571inversion1nstd212human GRCh38 chr19: 47,903,487-50,091,196 , GRCh37.p13 chr19: 48,406,744-50,594,453 , AP2A1, 155 more genes
    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
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