A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818643



Internal ID16407484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90141080..90199920hg38UCSC Ensembl
Innerchr8:91153308..91212148hg19UCSC Ensembl
Innerchr8:91222484..91281324hg18UCSC Ensembl
Innerchr8:91222484..91281324hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3858841
hg1958841
hg1858841
hg1758841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417540
SamplesNA18971
Known Genes
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)nsv818643
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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