A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818937



Internal ID16061092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129528368..130245727hg38UCSC Ensembl
Innerchr12:130012913..130730272hg19UCSC Ensembl
Innerchr12:128578866..129296225hg18UCSC Ensembl
Innerchr12:128537793..129255152hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38717360
hg19717360
hg18717360
hg17717360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417270
SamplesNA18593
Known GenesFZD10, FZD10-AS1, LOC100190940, TMEM132D
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)nsv818937
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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