A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834169



Internal ID16111352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:28699458..28907941hg38UCSC Ensembl
Outerchr22:29095446..29303929hg19UCSC Ensembl
Outerchr22:27425446..27633929hg18UCSC Ensembl
Outerchr22:27420000..27628483hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38208484
hg19208484
hg18208484
hg17208484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455922, nssv1455923
Samples
Known GenesCCDC117, CHEK2, HSCB, XBP1, ZNRF3
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)nsv834169
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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