A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv856e212



Internal ID20149312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75501461..75546222hg38UCSC Ensembl
chr16:75535359..75580120hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3844762
hg1944762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571653, esv3571620, esv3571676, esv3571709, esv3571720, esv3571687, esv3571698, esv3571731, esv3571609, esv3571631, esv3571598, esv3571664
Samples401110GJ, 401640WJ, 400336BG, 401972BA, 400221VM, 401719RL, 401022ML, 400558BL, 400051MR, 401869BG, 400022WA, 400353ML, 401714BM, 400686BM, 401410BJ, 400069CN, 401288LD, 400645KM
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv856e212
Frequency
Sample Size873
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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