A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818087



Internal ID16406928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142236759..142241825hg38UCSC Ensembl
Innerchr2:142994328..142999394hg19UCSC Ensembl
Innerchr2:142710798..142715864hg18UCSC Ensembl
Innerchr2:142828060..142833126hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg385067
hg195067
hg185067
hg175067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417832
SamplesNA18852
Known Genes
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)nsv818087
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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