A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834150



Internal ID16458019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:22428539..22624255hg38UCSC Ensembl
Outerchr22:22782875..22966725hg19UCSC Ensembl
Outerchr22:21112875..21296725hg18UCSC Ensembl
Outerchr22:21107429..21291279hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38195717
hg19183851
hg18183851
hg17183851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455871, nssv1455873, nssv1455870, nssv1455867, nssv1455869, nssv1455872, nssv1455868
Samples
Known GenesLOC648691, PRAME, ZNF280A, ZNF280B
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)nsv834150
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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