A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834551



Internal ID16111734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222607248..222776534hg38UCSC Ensembl
Outerchr2:223471967..223641253hg19UCSC Ensembl
Outerchr2:223180211..223349497hg18UCSC Ensembl
Outerchr2:223297472..223466758hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38169287
hg19169287
hg18169287
hg17169287
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1442579, nssv1442578
Samples
Known GenesFARSB, MOGAT1
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)nsv834551
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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