A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562100



Internal ID16349509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66524243..66626522hg38UCSC Ensembl
Innerchr13:67098375..67200654hg19UCSC Ensembl
Innerchr13:65996376..66098655hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38102280
hg19102280
hg18102280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175949
SamplesHGDP00175
Known GenesPCDH9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562100
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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