A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417263



Internal ID16058252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:35244176..35276062hg38UCSC Ensembl
Innerchr1:35709777..35741663hg19UCSC Ensembl
Innerchr1:35482364..35514250hg18UCSC Ensembl
Innerchr1:35378870..35410756hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3831887
hg1931887
hg1831887
hg1731887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818134
Supporting Variants
SamplesNA18593
Known GenesZMYM4
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)nssv1417263
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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