A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818595



Internal ID16060750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8855385..8895174hg38UCSC Ensembl
Innerchr8:8712895..8752684hg19UCSC Ensembl
Innerchr8:8750305..8790094hg18UCSC Ensembl
Innerchr8:8750305..8790094hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3839790
hg1939790
hg1839790
hg1739790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417499
SamplesNA18965
Known GenesMFHAS1
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)nsv818595
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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