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Items: 1 to 20 of 165

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5972239insertion1nstd209human GRCh38 chr13: 48,300,336-48,300,336 , GRCh37.p13 chr13: 48,874,472-48,874,472 RB1-DT
    nsv5672805copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,878,039-48,919,345 , GRCh38.p12 chr13: 48,303,903-48,345,209 RB1-DT, RB1, 2 more genes
    nsv5672804copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,611,883-48,939,117 , GRCh38.p12 chr13: 48,037,747-48,364,981 PCNPP5, LOC105370198, 9 more genes
    nsv5672727copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,877,851-49,054,207 , GRCh38.p12 chr13: 48,303,715-48,480,071 RB1, LPAR6, 4 more genes
    nsv5653622insertion1nstd207human GRCh38 chr13: 48,300,336-48,300,336 , GRCh37.p13 chr13: 48,874,472-48,874,472 RB1-DT
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5561330sequence alteration1nstd206human GRCh38 chr13: 44,983,377-49,709,767 , GRCh37.p13 chr13: 45,557,512-50,283,903 , ESD, 103 more genes
    nsv4997204copy number variation1nstd200human GRCh38 chr13: 43,050,454-56,920,222 , GRCh37.p13 chr13: 43,624,590-57,494,356 , RNY3P2, 222 more genes
    nsv4728809copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 45,487,628-52,639,336 , GRCh38.p12 chr13: 44,913,493-52,065,200 ATP7B, RCBTB2, 155 more genes
    nsv4683595copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,615,046-49,054,207 , GRCh38.p12 chr13: 48,040,910-48,480,071 NUDT15, ITM2B, 10 more genes
    nsv4682812copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr13: 48,611,883-49,054,207 , GRCh38.p12 chr13: 48,037,747-48,480,071 PCNPP5, LOC105370198, 10 more genes
    nsv4682531copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,876,883-49,057,026 , GRCh38.p12 chr13: 48,302,747-48,482,890 RB1, LPAR6, 4 more genes
    nsv4681759copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,877,837-49,054,207 , GRCh38.p12 chr13: 48,303,701-48,480,071 RB1, LPAR6, 4 more genes
    nsv4681688copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,877,837-48,987,032 , GRCh38.p12 chr13: 48,303,701-48,412,896 RB1, LPAR6, 4 more genes
    nsv4681281copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,877,837-48,878,195 , GRCh38.p12 chr13: 48,303,701-48,304,059 RB1-DT, RB1
    nsv4455376copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,817,328-49,333,400 , GRCh38.p12 chr13: 48,243,192-48,759,264 RB1-DT, PCNPP5, 9 more genes
    nsv4450016copy number variation1nstd102humanPathogenic GRCh37 chr13: 48,878,039-48,881,552 , GRCh38 chr13: 48,303,903-48,307,416 RB1, RB1-DT
    nsv4381419copy number variation1nstd173human GRCh37 chr13: 46,589,256-51,939,619 , GRCh38.p12 chr13: 46,015,121-51,365,483 , RNU6-68P, 105 more genes
    nsv4227837copy number variation1nstd166human GRCh37.p13 chr13: 48,874,455-48,874,901 , GRCh38.p12 chr13: 48,300,319-48,300,765 RB1-DT
    nsv3924676copy number variation1nstd102humanPathogenic GRCh38 chr13: 18,456,040-114,340,285 , GRCh37 chr13: 19,030,180-115,105,760 , NCBI36 chr13: 17,928,180-114,123,862 GRTP1, FABP5P1, 1334 more genes
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