Variant DetailsVariant: esv3573330Internal ID | 18354842 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 105185 | hg19 | 105185 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv938e212 | Supporting Variants | essv9814232, essv9814229, essv9814236, essv9814231, essv9814227, essv9814240, essv9814225, essv9814230, essv9814226, essv9814237, essv9814235, essv9814228, essv9814238, essv9814234, essv9814221, essv9814220, essv9814224, essv9814239, essv9814223 | Samples | 400316SL, 401275SJ, 400834SS, 400897MD, 401190WC, 400523GB, 400131CM, 402062KR, 402028BD, 401842BJ, 401538NS, 400198MD, 400302HW, 401652HL, 401067BD, 401894PD, 400586RD, 400996MC, 401152MV | 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) | esv3573330
| Frequency | Sample Size | 873 | Observed Gain | 19 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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