A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416591



Internal ID16059551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6425488..6471210hg38UCSC Ensembl
Innerchr12:6534654..6580376hg19UCSC Ensembl
Innerchr12:6404915..6450637hg18UCSC Ensembl
Innerchr12:6404915..6450637hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3845723
hg1945723
hg1845723
hg1745723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818881
Supporting Variants
SamplesNA19172
Known GenesCD27, CD27-AS1, TAPBPL, VAMP1
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)nssv1416591
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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