A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834230



Internal ID16458099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:47875350..48119065hg38UCSC Ensembl
Outerchr22:48271099..48514882hg19UCSC Ensembl
Outerchr22:46649763..46893546hg18UCSC Ensembl
Outerchr22:46591618..46835401hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38243716
hg19243784
hg18243784
hg17243784
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1456204, nssv1456201, nssv1456193, nssv1456190, nssv1456196, nssv1456200, nssv1456198, nssv1456194, nssv1456189, nssv1456192, nssv1456187, nssv1456188, nssv1456199, nssv1456203, nssv1456191, nssv1456202, nssv1456197, nssv1456195
Samples
Known Genes
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)nsv834230
Frequency
Sample Size95
Observed Gain3
Observed Loss15
Observed Complex0
Frequencyn/a


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