A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818413



Internal ID16407254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:36787625..36791991hg38UCSC Ensembl
Innerchr6:36755402..36759768hg19UCSC Ensembl
Innerchr6:36863380..36867746hg18UCSC Ensembl
Innerchr6:36863380..36867746hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384367
hg194367
hg184367
hg174367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417303
SamplesNA18608
Known GenesCPNE5
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)nsv818413
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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