A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1455925



Internal ID16106529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29503047..29661959hg38UCSC Ensembl
Outerchr22:29899036..30057948hg19UCSC Ensembl
Outerchr22:28229036..28387948hg18UCSC Ensembl
Outerchr22:28223590..28382502hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38158913
hg19158913
hg18158913
hg17158913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834172
Supporting Variants
Samples
Known GenesNF2, NIPSNAP1, THOC5
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)nssv1455925
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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