A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417190



Internal ID16058187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:80161388..80168182hg38UCSC Ensembl
Innerchr15:80453730..80460524hg19UCSC Ensembl
Innerchr15:78240785..78247579hg18UCSC Ensembl
Innerchr15:78240785..78247579hg17UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg386795
hg196795
hg186795
hg176795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817700
Supporting Variants
SamplesNA18558
Known GenesFAH
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)nssv1417190
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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