A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535106



Internal ID15159908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:58161561..58223434hg38UCSC Ensembl
Innerchr2:58388696..58450569hg19UCSC Ensembl
Innerchr2:58242200..58304073hg18UCSC Ensembl
Innerchr2:58300347..58362220hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3861874
hg1961874
hg1861874
hg1761874
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458052
Supporting Variants
SamplesHGDP00529
Known GenesFANCL
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv535106
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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