A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830430



Internal ID16107613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:102996203..103156228hg38UCSC Ensembl
Outerchr5:102331907..102491932hg19UCSC Ensembl
Outerchr5:102359806..102519831hg18UCSC Ensembl
Outerchr5:102359806..102519831hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38160026
hg19160026
hg18160026
hg17160026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444944, nssv1444943
Samples
Known GenesGIN1, PAM, PPIP5K2
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)nsv830430
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer