A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv811704



Internal ID16105660
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 StatusS
Merged Variantsnsv561667
Supporting Variants
Samples
Known GenesPCDH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv811704
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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