A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599907



Internal ID16040630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141103287..141150953hg38UCSC Ensembl
Innerchr5:140482871..140530534hg19UCSC Ensembl
Innerchr5:140463055..140510718hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3847667
hg1947664
hg1847664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042403
Samples
Known GenesPCDHB3, PCDHB4, PCDHB5, PCDHB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599907
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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