A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833190



Internal ID16110373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30833730..30996542hg38UCSC Ensembl
Outerchr16:30845051..31007863hg19UCSC Ensembl
Outerchr16:30752552..30915364hg18UCSC Ensembl
Outerchr16:30752552..30915364hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38162813
hg19162813
hg18162813
hg17162813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35n68
Supporting Variantsnssv1452545, nssv1452546, nssv1452547
Samples
Known GenesBCL7C, CTF1, FBXL19, FBXL19-AS1, HSD3B7, MIR4519, MIR762, ORAI3, SETD1A, STX1B
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)nsv833190
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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