Variant DetailsVariant: esv3573353Internal ID | 18354865 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 100951 | hg19 | 100951 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv938e212 | Supporting Variants | essv9814209, essv9814215, essv9814212, essv9814216, essv9814214, essv9814207, essv9814210, essv9814208, essv9814213, essv9814217 | Samples | 400739SS, 400051MR, 401687LR, 400882DD, 400817MB, 401864CV, 400624RJ, 401413RG, 401861GG, 400079AP | 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) | esv3573353
| Frequency | Sample Size | 873 | Observed Gain | 10 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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