A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817910



Internal ID16406751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63548764..63581575hg38UCSC Ensembl
Innerchr20:62180117..62212928hg19UCSC Ensembl
Innerchr20:61650561..61683372hg18UCSC Ensembl
Innerchr20:61650561..61683372hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3832812
hg1932812
hg1832812
hg1732812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35n64
Supporting Variantsnssv1416015, nssv1417733
SamplesNA12750, NA19003
Known GenesC20orf195, HELZ2
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)nsv817910
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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