A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818845



Internal ID16061000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67734155..67906211hg38UCSC Ensembl
Innerchr11:67501626..67673682hg19UCSC Ensembl
Innerchr11:67258202..67430258hg18UCSC Ensembl
Innerchr11:67258202..67430258hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38172057
hg19172057
hg18172057
hg17172057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417321, nssv1417248
SamplesNA18608, NA18577
Known GenesFAM86C2P
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)nsv818845
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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