A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833577



Internal ID16110760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:521331..725019hg38UCSC Ensembl
Outerchr18:521331..725019hg19UCSC Ensembl
Outerchr18:511331..715019hg18UCSC Ensembl
Outerchr18:511331..715019hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38203689
hg19203689
hg18203689
hg17203689
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453877, nssv1453872, nssv1453874, nssv1453870, nssv1453876, nssv1453881, nssv1453875, nssv1453882, nssv1453868, nssv1453879, nssv1453869, nssv1453871, nssv1453873, nssv1453878, nssv1453880
Samples
Known GenesC18orf56, CETN1, CLUL1, ENOSF1, TYMS, YES1
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)nsv833577
Frequency
Sample Size95
Observed Gain14
Observed Loss1
Observed Complex0
Frequencyn/a


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