A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832523



Internal ID16109706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116652538..116836005hg38UCSC Ensembl
Outerchr12:117090343..117273810hg19UCSC Ensembl
Outerchr12:115574726..115758193hg18UCSC Ensembl
Outerchr12:115553063..115736530hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38183468
hg19183468
hg18183468
hg17183468
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1450026, nssv1450027, nssv1450024, nssv1450025
Samples
Known GenesC12orf49, RNFT2
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)nsv832523
Frequency
Sample Size95
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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