A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817994



Internal ID16060149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38413480..38469858hg38UCSC Ensembl
Innerchr22:38809485..38865863hg19UCSC Ensembl
Innerchr22:37139431..37195809hg18UCSC Ensembl
Innerchr22:37133985..37190363hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3856379
hg1956379
hg1856379
hg1756379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415721
SamplesNA12248
Known GenesKCNJ4, KDELR3
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)nsv817994
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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