A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818528



Internal ID16060683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82132860..82156727hg38UCSC Ensembl
Innerchr7:81762176..81786043hg19UCSC Ensembl
Innerchr7:81600112..81623979hg18UCSC Ensembl
Innerchr7:81406827..81430694hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3823868
hg1923868
hg1823868
hg1723868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418471
SamplesNA19193
Known GenesCACNA2D1
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)nsv818528
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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