A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833659



Internal ID16110842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:30797706..30948639hg38UCSC Ensembl
Outerchr2:31020572..31171505hg19UCSC Ensembl
Outerchr2:30874076..31025009hg18UCSC Ensembl
Outerchr2:30932223..31083156hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38150934
hg19150934
hg18150934
hg17150934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441838, nssv1441837
Samples
Known GenesCAPN13, GALNT14
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)nsv833659
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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