Variant DetailsVariant: dgv227e212 Internal ID | 20148683 | Landmark | | Location Information | | Cytoband | 10q11.22 | Allele length | Assembly | Allele length | hg38 | 86116 | hg19 | 86427 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3578850, esv3578843, esv3578844, esv3578807, esv3578841, esv3578851, esv3578847, esv3578845, esv3578842, esv3578848, esv3578840 | Samples | 40031BA, 400083TG, 401079HJ, 402016HZ, 400631SJ, 401401BA, 401331LJ, 401930GD, 401874DJ, 401677MM, 400845ML, 400177SJ | Known Genes | HNRNPA1P33, LINC00842, LOC100996758, NPY4R | 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) | dgv227e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 12 | Observed Complex | 0 | Frequency | n/a |
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