A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834241



Internal ID16111424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63263127..63441071hg38UCSC Ensembl
Outerchr2:63490262..63668205hg19UCSC Ensembl
Outerchr2:63343766..63521709hg18UCSC Ensembl
Outerchr2:63401913..63579856hg17UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38177945
hg19177944
hg18177944
hg17177944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441943
Samples
Known GenesWDPCP
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)nsv834241
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer