A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834452



Internal ID16111635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168493973..168651650hg38UCSC Ensembl
Outerchr2:169350483..169508160hg19UCSC Ensembl
Outerchr2:169058729..169216406hg18UCSC Ensembl
Outerchr2:169175990..169333667hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38157678
hg19157678
hg18157678
hg17157678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64n68
Supporting Variantsnssv1442404, nssv1442402, nssv1442391, nssv1442403, nssv1442392, nssv1442388, nssv1442390, nssv1442399, nssv1442389, nssv1442397, nssv1442394, nssv1442387, nssv1442393, nssv1442398, nssv1442400, nssv1442401, nssv1442396
Samples
Known GenesCERS6, MIR4774
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)nsv834452
Frequency
Sample Size95
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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