A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818794



Internal ID16407635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1292798..1302334hg38UCSC Ensembl
Innerchr11:1314028..1323564hg19UCSC Ensembl
Innerchr11:1270604..1280140hg18UCSC Ensembl
Innerchr11:1270604..1280140hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg389537
hg199537
hg189537
hg179537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417745
SamplesNA19003
Known GenesTOLLIP
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)nsv818794
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