A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818851



Internal ID16407692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:81164942..81182270hg38UCSC Ensembl
Innerchr11:80875985..80893313hg19UCSC Ensembl
Innerchr11:80553633..80570961hg18UCSC Ensembl
Innerchr11:80553633..80570961hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3817329
hg1917329
hg1817329
hg1717329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418497
SamplesNA19193
Known Genes
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)nsv818851
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