A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561670



Internal ID16349079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52846383..52847977hg38UCSC Ensembl
Innerchr13:53420518..53422112hg19UCSC Ensembl
Innerchr13:52318519..52320113hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3152n54
Supporting Variantsnssv811709, nssv811710
Samples
Known GenesPCDH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561670
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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