A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1442634



Internal ID16093238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239180168..239315325hg38UCSC Ensembl
Outerchr2:240101864..240237020hg19UCSC Ensembl
Outerchr2:239766801..239901957hg18UCSC Ensembl
Outerchr2:239838118..239973274hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38135158
hg19135157
hg18135157
hg17135157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv834582
Supporting Variants
Samples
Known GenesHDAC4, MGC16025, MIR4269
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)nssv1442634
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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