A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818286



Internal ID16407127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155792205..155814287hg38UCSC Ensembl
Innerchr4:156713357..156735439hg19UCSC Ensembl
Innerchr4:156932807..156954889hg18UCSC Ensembl
Innerchr4:157070962..157093044hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3822083
hg1922083
hg1822083
hg1722083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417427
SamplesNA12234
Known GenesGUCY1B3
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)nsv818286
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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