A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818056



Internal ID16060211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15470313..15482377hg38UCSC Ensembl
Innerchr1:15796808..15808872hg19UCSC Ensembl
Innerchr1:15669395..15681459hg18UCSC Ensembl
Innerchr1:15542114..15554178hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3812065
hg1912065
hg1812065
hg1712065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415732, nssv1415731
SamplesNA12875, NA12865
Known GenesCELA2A, CELA2B
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)nsv818056
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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