A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533369



Internal ID15505792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:65357221..65934212hg38UCSC Ensembl
Innerchr13:65931353..66508344hg19UCSC Ensembl
Innerchr13:64829354..65406345hg18UCSC Ensembl
Innerchr13:64829354..65406345hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38576992
hg19576992
hg18576992
hg17576992
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455917
Supporting Variants
SamplesHGDP00224
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)nssv533369
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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