A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831221



Internal ID16108404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6896698..7078990hg38UCSC Ensembl
Outerchr8:6754220..6936512hg19UCSC Ensembl
Outerchr8:6741630..6923922hg18UCSC Ensembl
Outerchr8:6741630..6923922hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38182293
hg19182293
hg18182293
hg17182293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446844, nssv1446847, nssv1446845, nssv1446846
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFT1P, DEFT1P2
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)nsv831221
Frequency
Sample Size95
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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