A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831713



Internal ID16455582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121913646..122110104hg38UCSC Ensembl
Outerchr9:124675925..124872383hg19UCSC Ensembl
Outerchr9:123715746..123912204hg18UCSC Ensembl
Outerchr9:121755479..121951937hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38196459
hg19196459
hg18196459
hg17196459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447990, nssv1447989
Samples
Known GenesMIR548AA1, MIR548D1, TTLL11
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)nsv831713
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer