A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417942



Internal ID16058368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56924640..56954452hg38UCSC Ensembl
Innerchr18:54591871..54621683hg19UCSC Ensembl
Innerchr18:52742869..52772681hg18UCSC Ensembl
Innerchr18:52742869..52772681hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3829813
hg1929813
hg1829813
hg1729813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817793
Supporting Variants
SamplesNA18852
Known GenesWDR7
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)nssv1417942
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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