A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832116



Internal ID16109299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:34517989..34652353hg38UCSC Ensembl
Outerchr11:34539536..34673900hg19UCSC Ensembl
Outerchr11:34496112..34630476hg18UCSC Ensembl
Outerchr11:34496112..34630476hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38134365
hg19134365
hg18134365
hg17134365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449110, nssv1449108, nssv1449109
Samples
Known GenesEHF
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)nsv832116
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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