A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833983



Internal ID16111166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41051961..41213015hg38UCSC Ensembl
Outerchr20:39680601..39841655hg19UCSC Ensembl
Outerchr20:39114015..39275069hg18UCSC Ensembl
Outerchr20:39114015..39275069hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38161055
hg19161055
hg18161055
hg17161055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455099, nssv1455100, nssv1455098
Samples
Known GenesMIR6871, PLCG1, TOP1, ZHX3
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)nsv833983
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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