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Items: 1 to 20 of 189

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5933028copy number variation1nstd209human GRCh38 chr19: 40,670,430-40,670,587 , GRCh37.p13 chr19: 41,176,335-41,176,492 NUMBL
    nsv5524951copy number variation1nstd206human GRCh38 chr19: 40,670,432-40,670,604 , GRCh37.p13 chr19: 41,176,337-41,176,509 NUMBL
    nsv5359788translocation1nstd200human GRCh38 chr19: 40,560,189-40,560,189 , GRCh38 chr19: 40,681,450-40,681,450 , GRCh37.p13 chr19: 41,066,095-41,066,095 , GRCh37.p13 chr19: 41,187,355-41,187,355 NUMBL, SPTBN4
    nsv5287129copy number variation1nstd204human GRCh38.p13 chr19: 40,119,401-40,793,500 , GRCh37.p13 chr19: 40,625,308-41,299,405 CCNP, SHKBP1, 28 more genes
    nsv4624057copy number variation1nstd183human GRCh37 chr19: 41,188,456-41,231,472 , GRCh38.p12 chr19: 40,682,551-40,725,567 COQ8B, ITPKC, 2 more genes
    nsv4620463copy number variation1nstd183human GRCh37 chr19: 41,187,439-41,233,478 , GRCh38.p12 chr19: 40,681,534-40,727,573 COQ8B, ITPKC, 2 more genes
    nsv4503868mobile element insertion1nstd166human GRCh37.p13 chr19: 41,175,584-41,175,584 , GRCh38.p12 chr19: 40,669,679-40,669,679 NUMBL
    nsv4457494copy number variation1nstd102humanUncertain significance GRCh37 chr19: 41,191,376-41,239,029 , GRCh38.p12 chr19: 40,685,471-40,733,124 NUMBL, ITPKC, 2 more genes
    nsv4457372copy number variation1nstd102humanPathogenic GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575 ZNF461, LOC101927572, 735 more genes
    nsv4385665copy number variation1nstd173human GRCh37 chr19: 41,191,389-41,233,643 , GRCh38.p12 chr19: 40,685,484-40,727,738 ITPKC, COQ8B, 2 more genes
    nsv4384176copy number variation1nstd173human GRCh37 chr19: 41,191,482-41,269,985 , GRCh38.p12 chr19: 40,685,577-40,764,080 COQ8B, SNRPA, 4 more genes
    nsv4371449copy number variation1nstd173human GRCh37 chr19: 41,185,992-41,233,643 , GRCh38.p12 chr19: 40,680,087-40,727,738 RNU6-195P, COQ8B, 2 more genes
    nsv4367642copy number variation2nstd173human GRCh37 chr19: 41,191,482-41,233,478 , GRCh38.p12 chr19: 40,685,577-40,727,573 RNU6-195P, COQ8B, 2 more genes
    nsv4269550copy number variation1nstd166human GRCh37.p13 chr19: 41,175,570-41,175,655 , GRCh38.p12 chr19: 40,669,665-40,669,750 NUMBL
    nsv4262021copy number variation1nstd166human GRCh37.p13 chr19: 41,188,000-41,234,000 , GRCh38.p12 chr19: 40,682,095-40,728,095 NUMBL, ITPKC, 2 more genes
    nsv4258516copy number variation1nstd166human GRCh37.p13 chr19: 41,176,337-41,176,501 , GRCh38.p12 chr19: 40,670,432-40,670,596 NUMBL
    nsv4257532copy number variation1nstd166human GRCh37.p13 chr19: 41,195,257-41,195,393 , GRCh38.p12 chr19: 40,689,352-40,689,488 NUMBL
    nsv3957017copy number variation1nstd168human GRCh38 chr19: 40,642,988-40,714,807 , GRCh37.p13 chr19: 41,148,893-41,220,712 NUMBL, RNU6-195P, 1 more genes
    nsv3913730copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354 BCKDHA, ADGRE5, 1102 more genes
    nsv3912447copy number variation1nstd102humanPathogenic NCBI36 chr19: 42,502,119-47,934,680 , GRCh37 chr19: 37,810,279-43,242,840 , GRCh38 chr19: 37,319,377-42,738,688 MIR8077, TRI-TAT1-1, 233 more genes
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