A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417309



Internal ID16058299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17561468..17576803hg38UCSC Ensembl
Innerchr1:17887963..17903298hg19UCSC Ensembl
Innerchr1:17760550..17775885hg18UCSC Ensembl
Innerchr1:17633269..17648604hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3815336
hg1915336
hg1815336
hg1715336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818089
Supporting Variants
SamplesNA18608
Known GenesARHGEF10L
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)nssv1417309
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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