A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834239



Internal ID9425090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50485317..50630215hg38UCSC Ensembl
Outerchr22:50923746..51068643hg19UCSC Ensembl
Outerchr22:49270612..49415509hg18UCSC Ensembl
Outerchr22:49213890..49358787hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38144899
hg19144898
hg18144898
hg17144898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1456220, nssv1456216, nssv1456218, nssv1456221, nssv1456219, nssv1456222, nssv1456217
Samples
Known GenesADM2, ARSA, CHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, MAPK8IP2, MIOX, NCAPH2, ODF3B, SCO2, SYCE3, TYMP
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)nsv834239
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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