A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1445608



Internal ID16096212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117705792..117880497hg38UCSC Ensembl
Outerchr6:118026955..118201660hg19UCSC Ensembl
Outerchr6:118133648..118308353hg18UCSC Ensembl
Outerchr6:118133648..118308353hg17UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38174706
hg19174706
hg18174706
hg17174706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv830786
Supporting Variants
Samples
Known GenesNUS1
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)nssv1445608
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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