A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817789



Internal ID16059944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36536338..36856407hg38UCSC Ensembl
Innerchr18:34116301..34436370hg19UCSC Ensembl
Innerchr18:32370299..32690368hg18UCSC Ensembl
Innerchr18:32370299..32690368hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38320070
hg19320070
hg18320070
hg17320070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417558
SamplesNA18971
Known GenesFHOD3, KIAA1328, TPGS2
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)nsv817789
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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