A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1456212



Internal ID16453502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50094391..50143393hg38UCSC Ensembl
Outerchr22:50532820..50581822hg19UCSC Ensembl
Outerchr22:48874947..48923949hg18UCSC Ensembl
Outerchr22:48835277..48884279hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3849003
hg1949003
hg1849003
hg1749003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834236
Supporting Variants
Samples
Known GenesMOV10L1
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)nssv1456212
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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