A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416326



Internal ID16058539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221509703..221535503hg38UCSC Ensembl
Innerchr2:222374423..222400223hg19UCSC Ensembl
Innerchr2:222082667..222108467hg18UCSC Ensembl
Innerchr2:222199928..222225728hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3825801
hg1925801
hg1825801
hg1725801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818114
Supporting Variants
SamplesNA18856
Known GenesEPHA4
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)nssv1416326
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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