A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834120



Internal ID16111303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17733890..17904438hg38UCSC Ensembl
Outerchr22:18216656..18387204hg19UCSC Ensembl
Outerchr22:16596656..16767204hg18UCSC Ensembl
Outerchr22:16591210..16761758hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38170549
hg19170549
hg18170549
hg17170549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455682, nssv1455681, nssv1455684, nssv1455683
Samples
Known GenesBID, LINC00528, MICAL3, MIR3198-1
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)nsv834120
Frequency
Sample Size95
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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