A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818248



Internal ID16060403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86057929..86058774hg38UCSC Ensembl
Innerchr4:86979082..86979927hg19UCSC Ensembl
Innerchr4:87198106..87198951hg18UCSC Ensembl
Innerchr4:87336261..87337106hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38846
hg19846
hg18846
hg17846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416054, nssv1418446, nssv1416053, nssv1418361, nssv1415571, nssv1415947, nssv1418362, nssv1418445
SamplesNA12154, NA19194, NA12750, NA19192, NA12801, NA10847, NA12146, NA12812
Known GenesMAPK10
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)nsv818248
Frequency
Sample Size112
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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