A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417079



Internal ID16056905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38541223..38544832hg38UCSC Ensembl
Innerchr21:39913147..39916756hg19UCSC Ensembl
Innerchr21:38835017..38838626hg18UCSC Ensembl
Innerchr21:38835017..38838626hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg383610
hg193610
hg183610
hg173610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817930
Supporting Variants
SamplesNA07000
Known GenesERG
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)nssv1417079
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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