A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817899



Internal ID16060054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54038172hg38UCSC Ensembl
Innerchr20:52647823..52654711hg19UCSC Ensembl
Innerchr20:52081230..52088118hg18UCSC Ensembl
Innerchr20:52081230..52088118hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
hg176889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415712, nssv1416210, nssv1416284, nssv1416209, nssv1418248, nssv1418259
SamplesNA06993, NA12057, NA12891, NA06991, NA12878, NA12248
Known GenesBCAS1
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)nsv817899
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