Variant DetailsVariant: esv3582719Internal ID | 18364231 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 571816 | hg19 | 571816 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv940e212 | Supporting Variants | essv9814442, essv9814439, essv9814453, essv9814455, essv9814441, essv9814448, essv9814459, essv9814454, essv9814447, essv9814437, essv9814438, essv9814436, essv9814433, essv9814446, essv9814430, essv9814435, essv9814443, essv9814432, essv9814452, essv9814440, essv9814450, essv9814449, essv9814457, essv9814444, essv9814431, essv9814451, essv9814458, essv9814429 | Samples | 400145BL, 401465TB, 400204SC, 400594VJ, 401384BP, 401824MM, 400277LM, 401857VG, 401253MC, 401551MB, 401906DT, 400583HS, 401801LA, 402029KJ, 400113LD, 401739BJ, 400763BT, 400960TN, 400050RL, 400006DK, 400978JG, 401778CB, 401112LG, 400201PK, 400881GS, 401010HT, 400315DA, 402042BJ | Known Genes | ARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1 | 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) | esv3582719
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 28 | Observed Complex | 0 | Frequency | n/a |
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