A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418314



Internal ID16403506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50630132..50642332hg38UCSC Ensembl
Innerchr22:51068560..51080760hg19UCSC Ensembl
Innerchr22:49415426..49427626hg18UCSC Ensembl
Innerchr22:49358704..49370904hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3812201
hg1912201
hg1812201
hg1712201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818007
Supporting Variants
SamplesNA06991
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)nssv1418314
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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