A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818208



Internal ID16407049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3432609..3442776hg38UCSC Ensembl
Innerchr4:3434336..3444503hg19UCSC Ensembl
Innerchr4:3404134..3414301hg18UCSC Ensembl
Innerchr4:3471305..3481472hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3810168
hg1910168
hg1810168
hg1710168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417849
SamplesNA18853
Known GenesHGFAC, RGS12
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)nsv818208
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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