A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834130



Internal ID16111313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19837923..19940567hg38UCSC Ensembl
Outerchr22:19825446..19928090hg19UCSC Ensembl
Outerchr22:18205446..18308090hg18UCSC Ensembl
Outerchr22:18200000..18302644hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38102645
hg19102645
hg18102645
hg17102645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455695, nssv1455694
Samples
Known GenesC22orf29, GNB1L, TXNRD2
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)nsv834130
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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