A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599908



Internal ID16040631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141139584..141250122hg38UCSC Ensembl
Innerchr5:140519166..140629690hg19UCSC Ensembl
Innerchr5:140499350..140609874hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38110539
hg19110525
hg18110525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042404
Samples
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB6, PCDHB7, PCDHB8, PCDHB9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599908
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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