A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561672



Internal ID16349081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52846435..52847977hg38UCSC Ensembl
Innerchr13:53420570..53422112hg19UCSC Ensembl
Innerchr13:52318571..52320113hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381543
hg191543
hg181543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3151n54
Supporting Variantsnssv811713, nssv811714
Samples
Known GenesPCDH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561672
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer