A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834083



Internal ID16111266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32057387..32219777hg38UCSC Ensembl
Outerchr21:33429700..33592089hg19UCSC Ensembl
Outerchr21:32351571..32513960hg18UCSC Ensembl
Outerchr21:32351571..32513960hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38162391
hg19162390
hg18162390
hg17162390
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455595, nssv1455596
Samples
Known GenesLINC00159
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)nsv834083
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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