A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829819



Internal ID16107002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189126667..189280619hg38UCSC Ensembl
Outerchr3:188844456..188998408hg19UCSC Ensembl
Outerchr3:190327150..190481102hg18UCSC Ensembl
Outerchr3:190327158..190481110hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38153953
hg19153953
hg18153953
hg17153953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443292
Samples
Known GenesTPRG1, TPRG1-AS2
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)nsv829819
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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