A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599906



Internal ID16040629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141097321..141103287hg38UCSC Ensembl
Innerchr5:140476905..140482871hg19UCSC Ensembl
Innerchr5:140457089..140463055hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385967
hg195967
hg185967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042402
Samples
Known GenesPCDHB2, PCDHB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599906
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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