A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832169



Internal ID16109352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58932624..59094207hg38UCSC Ensembl
Outerchr11:58700097..58861680hg19UCSC Ensembl
Outerchr11:58456673..58618256hg18UCSC Ensembl
Outerchr11:58456673..58618256hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38161584
hg19161584
hg18161584
hg17161584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n68
Supporting Variantsnssv1449220, nssv1449221
Samples
Known GenesGLYATL1, 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)nsv832169
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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