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Items: 1 to 20 of 608

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5949222insertion1nstd209human GRCh38 chr2: 71,479,164-71,479,164 , GRCh37.p13 chr2: 71,706,294-71,706,294 DYSF
    nsv5886922copy number variation1nstd209human GRCh38 chr2: 71,662,438-71,662,487 , GRCh37.p13 chr2: 71,889,568-71,889,617 DYSF
    nsv5885148copy number variation1nstd209human GRCh38 chr2: 71,467,770-71,467,943 , GRCh37.p13 chr2: 71,694,900-71,695,073 DYSF
    nsv5884800copy number variation1nstd209human GRCh38 chr2: 71,515,316-71,553,386 , GRCh37.p13 chr2: 71,742,446-71,780,516 DYSF
    nsv5873814copy number variation1nstd209human GRCh38 chr2: 71,571,750-71,573,019 , GRCh37.p13 chr2: 71,798,880-71,800,149 DYSF
    nsv5873755copy number variation1nstd209human GRCh38 chr2: 71,571,028-71,571,107 , GRCh37.p13 chr2: 71,798,158-71,798,237 DYSF
    nsv5834018copy number variation1nstd209human GRCh38 chr2: 71,515,729-71,542,039 , GRCh37.p13 chr2: 71,742,859-71,769,169 DYSF
    nsv5834017copy number variation1nstd209human GRCh38 chr2: 71,472,674-71,478,271 , GRCh37.p13 chr2: 71,699,804-71,705,401 DYSF
    nsv5833712copy number variation2nstd209human GRCh38 chr2: 71,571,881-71,573,017 , GRCh37.p13 chr2: 71,799,011-71,800,147 DYSF
    nsv5833711copy number variation1nstd209human GRCh38 chr2: 71,540,828-71,553,183 , GRCh37.p13 chr2: 71,767,958-71,780,313 DYSF
    nsv5720500mobile element insertion1nstd211human GRCh38 chr2: 71,459,087-71,459,087 , GRCh37.p13 chr2: 71,686,217-71,686,217 DYSF
    nsv5715693mobile element insertion1nstd211human GRCh38 chr2: 71,624,073-71,624,073 , GRCh37.p13 chr2: 71,851,203-71,851,203 DYSF
    nsv5693950mobile element insertion1nstd211human GRCh38 chr2: 71,622,146-71,622,146 , GRCh37.p13 chr2: 71,849,276-71,849,276 DYSF
    nsv5685178mobile element insertion1nstd211human GRCh38 chr2: 71,482,463-71,482,463 , GRCh37.p13 chr2: 71,709,593-71,709,593 DYSF
    nsv5684245mobile element insertion2nstd211human GRCh38 chr2: 71,479,173-71,479,173 , GRCh37.p13 chr2: 71,706,303-71,706,303 DYSF
    nsv5674297insertion1nstd102humanPathogenic GRCh37 chr2: 71,840,498-71,840,498 , GRCh38 chr2: 71,613,368-71,613,368 DYSF
    nsv5673712copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,783,085-71,913,729 , GRCh38.p12 chr2: 71,555,955-71,686,599 DYSF
    nsv5673625copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 71,816,713-71,817,428 , GRCh38.p12 chr2: 71,589,583-71,590,298 DYSF
    nsv5673464copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 71,913,574-71,913,729 , GRCh38.p12 chr2: 71,686,444-71,686,599 DYSF
    nsv5622957insertion1nstd207human GRCh38 chr2: 71,618,584-71,618,584 , GRCh37.p13 chr2: 71,845,714-71,845,714 DYSF
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