A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818960



Internal ID16407801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43028957..43033007hg38UCSC Ensembl
Innerchr13:43603093..43607143hg19UCSC Ensembl
Innerchr13:42501093..42505143hg18UCSC Ensembl
Innerchr13:42501093..42505143hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg384051
hg194051
hg184051
hg174051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417109, nssv1417657
SamplesNA18529, NA18992
Known GenesDNAJC15
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)nsv818960
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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