A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832941



Internal ID16456810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28465092..28637663hg38UCSC Ensembl
Outerchr15:28710238..28882809hg19UCSC Ensembl
Outerchr15:26487795..26681850hg18UCSC Ensembl
Outerchr15:26487795..26681850hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38172572
hg19172572
hg18194056
hg17194056
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451698, nssv1451700, nssv1451699
Samples
Known GenesGOLGA8F, GOLGA8G, MIR4509-1, MIR4509-2, MIR4509-3
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)nsv832941
Frequency
Sample Size95
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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