A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817820



Internal ID16406661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20100731..20190836hg38UCSC Ensembl
Innerchr19:20211540..20301645hg19UCSC Ensembl
Innerchr19:20072540..20162645hg18UCSC Ensembl
Innerchr19:20072540..20162645hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3890106
hg1990106
hg1890106
hg1790106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415794
SamplesNA12875
Known GenesZNF486, ZNF90
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)nsv817820
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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