A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818957



Internal ID16407798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39488967..39493720hg38UCSC Ensembl
Innerchr13:40063104..40067857hg19UCSC Ensembl
Innerchr13:38961104..38965857hg18UCSC Ensembl
Innerchr13:38961104..38965857hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384754
hg194754
hg184754
hg174754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417493
SamplesNA18965
Known GenesLHFP
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)nsv818957
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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