A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533332



Internal ID15510322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42897267..42950680hg38UCSC Ensembl
Innerchr13:43471403..43524816hg19UCSC Ensembl
Innerchr13:42369403..42422816hg18UCSC Ensembl
Innerchr13:42369403..42422816hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3853414
hg1953414
hg1853414
hg1753414
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455871
Supporting Variants
SamplesHGDP01229
Known GenesEPSTI1
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)nssv533332
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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