A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817849



Internal ID16060004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44398850..44430844hg38UCSC Ensembl
Innerchr19:44903015..44935019hg19UCSC Ensembl
Innerchr19:49594855..49626859hg18UCSC Ensembl
Innerchr19:49594855..49626859hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3831995
hg1932005
hg1832005
hg1732005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416810
SamplesNA19159
Known GenesZNF229, ZNF285
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)nsv817849
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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