A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533481



Internal ID15511836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92767109..92854611hg38UCSC Ensembl
Innerchr13:93419362..93506864hg19UCSC Ensembl
Innerchr13:92217363..92304865hg18UCSC Ensembl
Innerchr13:92217363..92304865hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3887503
hg1987503
hg1887503
hg1787503
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456072
Supporting Variants
SamplesNINDS_156
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)nssv533481
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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