A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415640



Internal ID16404303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11644391..11677061hg38UCSC Ensembl
Innerchr5:11644503..11677173hg19UCSC Ensembl
Innerchr5:11697503..11730173hg18UCSC Ensembl
Innerchr5:11697503..11730173hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3832671
hg1932671
hg1832671
hg1732671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818315
Supporting Variants
SamplesNA12248
Known GenesCTNND2
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)nssv1415640
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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