A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417746



Internal ID16058938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64329761..64362250hg38UCSC Ensembl
Innerchr11:64097233..64129722hg19UCSC Ensembl
Innerchr11:63853809..63886298hg18UCSC Ensembl
Innerchr11:63853809..63886298hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3832490
hg1932490
hg1832490
hg1732490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818841
Supporting Variants
SamplesNA19003
Known GenesCCDC88B, MIR7155, RPS6KA4
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)nssv1417746
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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