Variant DetailsVariant: dgv68e212 Internal ID | 20148524 | Landmark | | Location Information | | Cytoband | 1p21.1 | Allele length | Assembly | Allele length | hg38 | 204428 | hg19 | 204428 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3583248, esv3583471, esv3582915, esv3583137, esv3582804 | Samples | 400094RS, 401117NA, 400553PP, 401725MR, 400006DK, 401067BD, 400837HN, 400158FB, 400501SJ | Known Genes | ACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B | 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) | dgv68e212
| Frequency | Sample Size | 873 | Observed Gain | 9 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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