Variant DetailsVariant: esv3573375Internal ID | 18354887 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 63795 | hg19 | 63795 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv943e212 | Supporting Variants | essv9814401, essv9814402, essv9814389, essv9814391, essv9814393, essv9814390, essv9814409, essv9814405 | Samples | 400359OR, 401299ST, 400141CC, 400688FL, 400148MS, 400681MC, 402001SR, 400249BC | Known Genes | KANSL1, KANSL1-AS1 | 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) | esv3573375
| Frequency | Sample Size | 873 | Observed Gain | 8 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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