A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533503



Internal ID15161250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:103282868..103485612hg38UCSC Ensembl
Innerchr13:103935218..104137962hg19UCSC Ensembl
Innerchr13:102733219..102935963hg18UCSC Ensembl
Innerchr13:102733219..102935963hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38202745
hg19202745
hg18202745
hg17202745
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456099
Supporting Variants
SamplesHGDP00738
Known Genes
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)nssv533503
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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