A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599919



Internal ID16040642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141182193..141212836hg38UCSC Ensembl
Innerchr5:140561768..140592408hg19UCSC Ensembl
Innerchr5:140541952..140572592hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3830644
hg1930641
hg1830641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042422
Samples
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB16, PCDHB9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599919
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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