A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533479



Internal ID15166034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92308898..92386660hg38UCSC Ensembl
Innerchr13:92961151..93038913hg19UCSC Ensembl
Innerchr13:91759152..91836914hg18UCSC Ensembl
Innerchr13:91759152..91836914hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3877763
hg1977763
hg1877763
hg1777763
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456068
Supporting Variants
SamplesNINDS_55
Known GenesGPC5
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)nssv533479
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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