A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830213



Internal ID16454082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:15181038..15322094hg38UCSC Ensembl
Outerchr5:15181147..15322203hg19UCSC Ensembl
Outerchr5:15234147..15375203hg18UCSC Ensembl
Outerchr5:15234147..15375203hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38141057
hg19141057
hg18141057
hg17141057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444239
Samples
Known Genes
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)nsv830213
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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