A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832998



Internal ID16456867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:47890701..48004606hg38UCSC Ensembl
Outerchr15:48182898..48296803hg19UCSC Ensembl
Outerchr15:45970190..46084095hg18UCSC Ensembl
Outerchr15:45970190..46084095hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38113906
hg19113906
hg18113906
hg17113906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1451938, nssv1451939
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)nsv832998
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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