A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818039



Internal ID16060194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115426..71124357hg38UCSC Ensembl
Innerchr2:71342556..71351487hg19UCSC Ensembl
Innerchr2:71196064..71204995hg18UCSC Ensembl
Innerchr2:71254211..71263142hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg388932
hg198932
hg188932
hg178932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418134
SamplesNA19144
Known GenesMCEE
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)nsv818039
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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