A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818241



Internal ID16407082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:66083757..66104680hg38UCSC Ensembl
Innerchr4:66949475..66970398hg19UCSC Ensembl
Innerchr4:66632070..66652993hg18UCSC Ensembl
Innerchr4:66778241..66799164hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3820924
hg1920924
hg1820924
hg1720924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417856, nssv1417857
SamplesNA18854, NA18852
Known Genes
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)nsv818241
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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