A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817891



Internal ID16060046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32051627..32064574hg38UCSC Ensembl
Innerchr20:30639430..30652377hg19UCSC Ensembl
Innerchr20:30103091..30116038hg18UCSC Ensembl
Innerchr20:30103091..30116038hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3812948
hg1912948
hg1812948
hg1712948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417703
SamplesNA18999
Known GenesHCK
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)nsv817891
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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