Variant DetailsVariant: dgv940e212 | Internal ID | 20149396 | | Landmark | | | Location Information | | | Cytoband | 17q21.31 | | Allele length | | Assembly | Allele length | | hg38 | 594345 | | hg19 | 594345 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3582730, esv3582745, esv3582780, esv3582722, esv3582740, esv3582762, esv3582731, esv3582725, esv3582777, esv3582746, esv3582784, esv3582748, esv3582733, esv3582785, esv3582750, esv3582789, esv3582757, esv3582728, esv3582715, esv3582766, esv3582739, esv3582735, esv3582719 | | Samples | 400075MR, 400424LN, 400145BL, 401465TB, 400987FB, 400926LJ, 400204SC, 400594VJ, 401302LJ, 401183HP, 401927SK, 401384BP, 400553PP, 401824MM, 400641WJ, 400277LM, 401857VG, 400425SL, 401253MC, 400241CP, 400360SM, 401551MB, 401906DT, 400827MM, 401695BT, 400526DR, 400022WA, 400583HS, 401155ML, 401831TW, 401596PJ, 401994BD, 401801LA, 402029KJ, 400113LD, 401646MC, 401406KF, 400109LJ, 401739BJ, 400733SW, 400763BT, 401655DC, 400870KC, 400960TN, 400043HC, 401618HR, 401326LI, 400050RL, 400006DK, 400978JG, 401919MD, 400571WV, 401778CB, 401112LG, 401922MW, 401616WP, 400201PK, 401391PJ, 401535RJ, 400454RE, 400881GS, 401847RK, 400295PS, 400069CN, 401958MF, 401010HT, 401314MK, 401858TP, 401912HD, 400315DA, 402042BJ, 401628GC, 400213DB, 400532MH, 401111LH | | 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) | dgv940e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 75 | | Observed Complex | 0 | | Frequency | n/a |
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