A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1445014



Internal ID16442304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:120750733..120923321hg38UCSC Ensembl
Outerchr5:120086428..120259016hg19UCSC Ensembl
Outerchr5:120114327..120286915hg18UCSC Ensembl
Outerchr5:120114327..120286915hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38172589
hg19172589
hg18172589
hg17172589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830466
Supporting Variants
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)nssv1445014
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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