A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831489



Internal ID16108672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144342140..144544026hg38UCSC Ensembl
Outerchr8:145565802..145769410hg19UCSC Ensembl
Outerchr8:145536610..145740218hg18UCSC Ensembl
Outerchr8:145536610..145740218hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38201887
hg19203609
hg18203609
hg17203609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447523, nssv1447528, nssv1447520, nssv1447531, nssv1447527, nssv1447534, nssv1447525, nssv1447521, nssv1447522, nssv1447533, nssv1447535, nssv1447532, nssv1447526, nssv1447530, nssv1447524, nssv1447519
Samples
Known GenesADCK5, ARHGAP39, C8orf82, CPSF1, CYHR1, FBXL6, FOXH1, GPT, KIFC2, LOC100287098, LRRC14, LRRC24, MFSD3, MIR1234, MIR6849, MIR6893, MIR939, PPP1R16A, RECQL4, SLC39A4, SLC52A2, TMEM249, TONSL, VPS28
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)nsv831489
Frequency
Sample Size95
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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