A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561667



Internal ID16349076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52846209..52848131hg38UCSC Ensembl
Innerchr13:53420344..53422266hg19UCSC Ensembl
Innerchr13:52318345..52320267hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381923
hg191923
hg181923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv811704
Samples
Known GenesPCDH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561667
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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