A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417515



Internal ID16058741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10659588..10690375hg38UCSC Ensembl
Innerchr1:10719645..10750432hg19UCSC Ensembl
Innerchr1:10642232..10673019hg18UCSC Ensembl
Innerchr1:10653911..10684698hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3830788
hg1930788
hg1830788
hg1730788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818888
Supporting Variants
SamplesNA18968
Known GenesCASZ1
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)nssv1417515
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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