A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817698



Internal ID9373521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:74596822..74727108hg38UCSC Ensembl
Innerchr15:74889163..75019449hg19UCSC Ensembl
Innerchr15:72676216..72806502hg18UCSC Ensembl
Innerchr15:72676216..72806502hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38130287
hg19130287
hg18130287
hg17130287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415707
SamplesNA12248
Known GenesARID3B, CLK3, CYP1A1, EDC3
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)nsv817698
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer