A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416718



Internal ID16059431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:760156..827702hg38UCSC Ensembl
Innerchr4:753944..821490hg19UCSC Ensembl
Innerchr4:743944..811490hg18UCSC Ensembl
Innerchr4:743774..811320hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3867547
hg1967547
hg1867547
hg1767547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818207
Supporting Variants
SamplesNA19159
Known GenesCPLX1, LOC100129917, PCGF3
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)nssv1416718
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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