A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818375



Internal ID16407216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110419599..110720556hg38UCSC Ensembl
Innerchr5:109755300..110056257hg19UCSC Ensembl
Innerchr5:109783199..110084156hg18UCSC Ensembl
Innerchr5:109783199..110084156hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38300958
hg19300958
hg18300958
hg17300958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418071
SamplesNA11882
Known GenesTMEM232
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)nsv818375
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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