A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817697



Internal ID16059852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:74044292..74050989hg38UCSC Ensembl
Innerchr15:74336633..74343330hg19UCSC Ensembl
Innerchr15:72123686..72130383hg18UCSC Ensembl
Innerchr15:72123686..72130383hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg386698
hg196698
hg186698
hg176698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416101, nssv1416100
SamplesNA12801, NA12813
Known GenesPML
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)nsv817697
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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