A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818342



Internal ID16060497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32135493hg38UCSC Ensembl
Innerchr5:32107084..32135599hg19UCSC Ensembl
Innerchr5:32142841..32171356hg18UCSC Ensembl
Innerchr5:32142841..32171356hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3828516
hg1928516
hg1828516
hg1728516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n64
Supporting Variantsnssv1417413
SamplesNA18951
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818342
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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