A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818048



Internal ID16060203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73998307..74085953hg38UCSC Ensembl
Innerchr2:74225434..74313080hg19UCSC Ensembl
Innerchr2:74078942..74166588hg18UCSC Ensembl
Innerchr2:74137089..74224735hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3887647
hg1987647
hg1887647
hg1787647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416317
SamplesNA18855
Known GenesTET3
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)nsv818048
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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