A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817874



Internal ID16060029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55067334..55103555hg38UCSC Ensembl
Innerchr19:55578702..55614923hg19UCSC Ensembl
Innerchr19:60270514..60306735hg18UCSC Ensembl
Innerchr19:60270514..60306735hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3836222
hg1936222
hg1836222
hg1736222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417506
SamplesNA18968
Known GenesEPS8L1, PPP1R12C, RDH13
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)nsv817874
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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