A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv89n68



Internal ID20147858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38133386..38350917hg38UCSC Ensembl
chr7:38172988..38390518hg19UCSC Ensembl
chr7:38139513..38357043hg18UCSC Ensembl
chr7:37946228..38163758hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38217532
hg19217531
hg18217531
hg17217531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv830964, nsv830963
Samples
Known GenesSTARD3NL, TARP, TRG-AS1
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)dgv89n68
Frequency
Sample Size95
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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