A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817688



Internal ID16406529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:37896606..37902554hg38UCSC Ensembl
Innerchr15:38188807..38194755hg19UCSC Ensembl
Innerchr15:35976099..35982047hg18UCSC Ensembl
Innerchr15:35976099..35982047hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg385949
hg195949
hg185949
hg175949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416498, nssv1416499
SamplesNA18515, NA18517
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)nsv817688
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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