Variant DetailsVariant: essv9808696Internal ID | 18315895 | Landmark | | Location Information | | Cytoband | 15q21.1 | Allele length | Assembly | Allele length | hg38 | 713637 | hg19 | 713637 |
| Variant Type | CNV gain | Copy Number | 3 | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | esv3569553 | Supporting Variants | | Samples | 401067BD | Known Genes | BLOC1S6, C15orf48, GATM, GATM-AS1, HMGN2P46, MIR147B, SLC30A4, SPATA5L1, SQRDL | 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 | Number of probes=612 | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | essv9808696
| Frequency | Sample Size | 873 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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