A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831350



Internal ID16108533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69559928..69745090hg38UCSC Ensembl
Outerchr8:70472163..70657325hg19UCSC Ensembl
Outerchr8:70634717..70819879hg18UCSC Ensembl
Outerchr8:70634717..70819879hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38185163
hg19185163
hg18185163
hg17185163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92n68
Supporting Variantsnssv1447202, nssv1447203
Samples
Known GenesSLCO5A1, SULF1
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)nsv831350
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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