A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817828



Internal ID16059983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46443007..46512018hg38UCSC Ensembl
Innerchr2:46670146..46739157hg19UCSC Ensembl
Innerchr2:46523650..46592661hg18UCSC Ensembl
Innerchr2:46581797..46650808hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3869012
hg1969012
hg1869012
hg1769012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418345, nssv1418346
SamplesNA10847, NA12146
Known GenesATP6V1E2, TMEM247
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)nsv817828
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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