A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817814



Internal ID16059969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14469301..14479800hg38UCSC Ensembl
Innerchr19:14580113..14590612hg19UCSC Ensembl
Innerchr19:14441113..14451612hg18UCSC Ensembl
Innerchr19:14441113..14451612hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3810500
hg1910500
hg1810500
hg1710500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417504
SamplesNA18968
Known GenesGIPC1, PKN1, PTGER1
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)nsv817814
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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