A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817680



Internal ID16406521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31727863..32222725hg38UCSC Ensembl
Innerchr15:32020066..32514926hg19UCSC Ensembl
Innerchr15:29807358..30302218hg18UCSC Ensembl
Innerchr15:29807358..30302218hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38494863
hg19494861
hg18494861
hg17494861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416099
SamplesNA12813
Known GenesCHRNA7
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)nsv817680
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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