A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818318



Internal ID16407159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13204437..13332766hg38UCSC Ensembl
Innerchr5:13204549..13332878hg19UCSC Ensembl
Innerchr5:13257549..13385878hg18UCSC Ensembl
Innerchr5:13257549..13385878hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38128330
hg19128330
hg18128330
hg17128330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv52n64
Supporting Variantsnssv1417461
SamplesNA10863
Known Genes
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)nsv818318
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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