A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833711



Internal ID16110894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3004276..3162121hg38UCSC Ensembl
Outerchr19:3004274..3162119hg19UCSC Ensembl
Outerchr19:2955274..3113119hg18UCSC Ensembl
Outerchr19:2955274..3113119hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38157846
hg19157846
hg18157846
hg17157846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47n68
Supporting Variantsnssv1454224, nssv1454222, nssv1454220, nssv1454217, nssv1454219, nssv1454221, nssv1454223, nssv1454218
Samples
Known GenesAES, GNA11, GNA15, TLE2
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)nsv833711
Frequency
Sample Size95
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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