A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818924



Internal ID16061079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71788125..71886804hg38UCSC Ensembl
Innerchr12:72181905..72280584hg19UCSC Ensembl
Innerchr12:70468172..70566851hg18UCSC Ensembl
Innerchr12:70468172..70566851hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3898680
hg1998680
hg1898680
hg1798680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417101
SamplesNA18529
Known GenesMRS2P2, TBC1D15
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)nsv818924
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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