A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834116



Internal ID16457985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:15405294..15610538hg38UCSC Ensembl
Outerchr22:16367425..16572669hg19UCSC Ensembl
Outerchr22:14747425..14952669hg18UCSC Ensembl
Outerchr22:14741979..14947223hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38205245
hg19205245
hg18205245
hg17205245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455675, nssv1455667, nssv1455666, nssv1455665, nssv1455674, nssv1455671, nssv1455673, nssv1455670, nssv1455676, nssv1455663, nssv1455672, nssv1455677, nssv1455664, nssv1455669, nssv1455668
Samples
Known GenesOR11H1
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)nsv834116
Frequency
Sample Size95
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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