A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817749



Internal ID16406590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:792776..947302hg38UCSC Ensembl
Innerchr17:696016..850542hg19UCSC Ensembl
Innerchr17:642766..797292hg18UCSC Ensembl
Innerchr17:642766..797292hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38154527
hg19154527
hg18154527
hg17154527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417621
SamplesNA18978
Known GenesNXN
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)nsv817749
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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