A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16n64



Internal ID20146454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27493793..27501613hg38UCSC Ensembl
chr12:27646726..27654546hg19UCSC Ensembl
chr12:27537993..27545813hg18UCSC Ensembl
chr12:27537993..27545813hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387821
hg197821
hg187821
hg177821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818898, nsv818897
SamplesNA18516, NA18517, NA19144, NA19143, NA18515, NA19145
Known GenesSMCO2
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)dgv16n64
Frequency
Sample Size112
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer