A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818206



Internal ID16060361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73616..94493hg38UCSC Ensembl
Innerchr4:73508..94380hg19UCSC Ensembl
Innerchr4:63508..84380hg18UCSC Ensembl
Innerchr4:63508..84380hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3820878
hg1920873
hg1820873
hg1720873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415631, nssv1416540, nssv1415630
SamplesNA10835, NA12248, NA19171
Known GenesZNF595, ZNF718
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)nsv818206
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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