A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818974



Internal ID16407815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68813554..68817380hg38UCSC Ensembl
Innerchr13:69387686..69391512hg19UCSC Ensembl
Innerchr13:68285687..68289513hg18UCSC Ensembl
Innerchr13:68285687..68289513hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg383827
hg193827
hg183827
hg173827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417404
SamplesNA18951
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)nsv818974
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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