A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831369



Internal ID16108552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81605833..81823586hg38UCSC Ensembl
Outerchr8:82518068..82735821hg19UCSC Ensembl
Outerchr8:82680623..82898376hg18UCSC Ensembl
Outerchr8:82680623..82898376hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38217754
hg19217754
hg18217754
hg17217754
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447231, nssv1447232
Samples
Known GenesCHMP4C, IMPA1, SLC10A5, SNX16, ZFAND1
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)nsv831369
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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