A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832421



Internal ID16109604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54522913..54691618hg38UCSC Ensembl
Outerchr12:54916697..55085402hg19UCSC Ensembl
Outerchr12:53202964..53371669hg18UCSC Ensembl
Outerchr12:53202964..53371669hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38168706
hg19168706
hg18168706
hg17168706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449847, nssv1449848
Samples
Known GenesDCD, GLYCAM1, LACRT, NCKAP1L, PDE1B, PPP1R1A
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)nsv832421
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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