Variant DetailsVariant: dgv1288e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr22:19794300..19795982;width=800;overview=1) Internal ID | 20149744 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 1683 | hg19 | 1683 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3568262, esv3568259, esv3568261 | Samples | 400911GA, 400789KV, 400634MP, 401602PR, 400360SM, 400743LS, 400411TG, 401655DC, 401477ST, 401278DM, 400705KK, 400430KV, 400654YW, 400454RE, 401608GE, 400376SJ, 402073LQ, 401154BR | Known Genes | GNB1L | 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) | dgv1288e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 18 | Observed Complex | 0 | Frequency | n/a |
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