A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832171



Internal ID16109354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58958457..59111366hg38UCSC Ensembl
Outerchr11:58725930..58878839hg19UCSC Ensembl
Outerchr11:58482506..58635415hg18UCSC Ensembl
Outerchr11:58482506..58635415hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38152910
hg19152910
hg18152910
hg17152910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n68
Supporting Variantsnssv1449222
Samples
Known GenesFAM111B, LOC283194
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)nsv832171
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