A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418449



Internal ID16059676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150944370..150966128hg38UCSC Ensembl
Innerchr4:151865522..151887280hg19UCSC Ensembl
Innerchr4:152084972..152106730hg18UCSC Ensembl
Innerchr4:152223127..152244885hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3821759
hg1921759
hg1821759
hg1721759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818284
Supporting Variants
SamplesNA19194
Known GenesLRBA
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)nssv1418449
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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