A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561673



Internal ID16349082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52846544..52847815hg38UCSC Ensembl
Innerchr13:53420679..53421950hg19UCSC Ensembl
Innerchr13:52318680..52319951hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381272
hg191272
hg181272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3151n54
Supporting Variantsnssv811716, nssv811715
Samples
Known GenesPCDH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561673
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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