A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833867



Internal ID16111050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49733820..49943224hg38UCSC Ensembl
Outerchr19:50237077..50446481hg19UCSC Ensembl
Outerchr19:54928889..55138293hg18UCSC Ensembl
Outerchr19:54928889..55138293hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38209405
hg19209405
hg18209405
hg17209405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n68
Supporting Variantsnssv1454836, nssv1454846, nssv1454842, nssv1454843, nssv1454835, nssv1454845, nssv1454841, nssv1454840, nssv1454837, nssv1454844, nssv1454834, nssv1454839, nssv1454838, nssv1454833, nssv1454832
Samples
Known GenesAKT1S1, AP2A1, ATF5, FUZ, IL4I1, MED25, MIR4749, MIR4750, MIR4751, MIR6799, MIR6800, NUP62, PNKP, PTOV1, PTOV1-AS1, TBC1D17, TSKS
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)nsv833867
Frequency
Sample Size95
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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