A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457194



Internal ID15517259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:71143283..71409321hg38UCSC Ensembl
Innerchr15:71435622..71701660hg19UCSC Ensembl
Innerchr15:69222676..69488714hg18UCSC Ensembl
Innerchr15:69222676..69488714hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38266039
hg19266039
hg18266039
hg17266039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534436
SamplesHGDP01030
Known GenesTHSD4
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)nsv457194
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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