A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831943



Internal ID16109126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:88905079..89106077hg38UCSC Ensembl
Outerchr10:90664836..90865834hg19UCSC Ensembl
Outerchr10:90654816..90855814hg18UCSC Ensembl
Outerchr10:90654816..90855814hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38200999
hg19200999
hg18200999
hg17200999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1448654
Samples
Known GenesACTA2, FAS, FAS-AS1, MIR4679-1, MIR4679-2, STAMBPL1
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)nsv831943
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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