A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818378



Internal ID16060533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112721089..112892196hg38UCSC Ensembl
Innerchr1:113263711..113434818hg19UCSC Ensembl
Innerchr1:113065234..113236341hg18UCSC Ensembl
Innerchr1:112975753..113146860hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38171108
hg19171108
hg18171108
hg17171108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415610
SamplesNA12248
Known GenesFAM19A3, LOC100996702
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)nsv818378
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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