A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818605



Internal ID16060760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14773392..15802730hg38UCSC Ensembl
Innerchr8:14630901..15660239hg19UCSC Ensembl
Innerchr8:14675272..15704610hg18UCSC Ensembl
Innerchr8:14675272..15704610hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381029339
hg191029339
hg181029339
hg171029339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417705, nssv1417716
SamplesNA10863, NA12234
Known GenesMIR383, SGCZ, TUSC3
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)nsv818605
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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