A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829989



Internal ID16107172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:82435486..82636734hg38UCSC Ensembl
Outerchr4:83356639..83557887hg19UCSC Ensembl
Outerchr4:83575663..83776911hg18UCSC Ensembl
Outerchr4:83713818..83915066hg17UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38201249
hg19201249
hg18201249
hg17201249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1443778
Samples
Known GenesENOPH1, LINC00575, SCD5, TMEM150C
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)nsv829989
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