A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818757



Internal ID16060912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44924628..44935873hg38UCSC Ensembl
Innerchr10:45420076..45431321hg19UCSC Ensembl
Innerchr10:44740082..44751327hg18UCSC Ensembl
Innerchr10:44740082..44751327hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3811246
hg1911246
hg1811246
hg1711246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417725
SamplesNA19003
Known GenesTMEM72, TMEM72-AS1
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)nsv818757
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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