A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533368



Internal ID15503266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:65336660..65818859hg38UCSC Ensembl
Innerchr13:65910792..66392991hg19UCSC Ensembl
Innerchr13:64808793..65290992hg18UCSC Ensembl
Innerchr13:64808793..65290992hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38482200
hg19482200
hg18482200
hg17482200
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455916
Supporting Variants
Samples1780862162_A
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)nssv533368
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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