A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818355



Internal ID16407196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86328599..86335207hg38UCSC Ensembl
Innerchr5:85624417..85631025hg19UCSC Ensembl
Innerchr5:85660173..85666781hg18UCSC Ensembl
Innerchr5:85660173..85666781hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386609
hg196609
hg186609
hg176609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417483
SamplesNA12234
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)nsv818355
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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