A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834094



Internal ID16111277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37135410..37298322hg38UCSC Ensembl
Outerchr21:38507710..38670624hg19UCSC Ensembl
Outerchr21:37429580..37592494hg18UCSC Ensembl
Outerchr21:37429580..37592494hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38162913
hg19162915
hg18162915
hg17162915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70n68
Supporting Variantsnssv1455606
Samples
Known GenesDSCR3, DSCR9, TTC3
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv834094
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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