A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698429



Internal ID15088395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141103287..141150948hg38UCSC Ensembl
Innerchr5:140482871..140530529hg19UCSC Ensembl
Innerchr5:140463055..140510713hg18UCSC Ensembl
Innerchr5:140463055..140510713hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3847662
hg1947659
hg1847659
hg1747659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522785
Supporting Variants
Samples
Known GenesPCDHB3, PCDHB4, PCDHB5, PCDHB6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698429
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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