Variant DetailsVariant: dgv942e212Internal ID | 20149398 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 41556 | hg19 | 41556 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3582759, esv3582768, esv3582752, esv3582754, esv3582763, esv3582764, esv3582717, esv3582729, esv3582778, esv3582753 | Samples | 401477ST, 400660GK, 401494PD, 401771OS, 401414CR, 401702GB, 400520FM, 401410BJ, 400274TL, 400795CL, 401844ZD, 401254AE, 400234CA | Known Genes | KANSL1 | Method | SNP array | Analysis | We 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. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | dgv942e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 13 | Observed Complex | 0 | Frequency | n/a |
|
|