A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818975



Internal ID16407816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68988753..69019341hg38UCSC Ensembl
Innerchr13:69562885..69593473hg19UCSC Ensembl
Innerchr13:68460886..68491474hg18UCSC Ensembl
Innerchr13:68460886..68491474hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3830589
hg1930589
hg1830589
hg1730589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418504
SamplesNA19193
Known GenesMIR548H4
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)nsv818975
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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