Variant DetailsVariant: dgv2225e212 Internal ID | 20150681 | Landmark | | Location Information | | Cytoband | Xp22.2 | Allele length | Assembly | Allele length | hg38 | 3950 | hg19 | 3950 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3576774, esv3576779, esv3576778, esv3576777, esv3576775, esv3576780 | Samples | 400424LN, 401196CR, 401927SK, 401820SD, 402064DC, 401773AM, 400793BR, 400763BT, 401591BE, 400375KA, 401326LI, 402074RR, 400942HR | Known Genes | RAB9A | 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) | dgv2225e212
| Frequency | Sample Size | 873 | Observed Gain | 13 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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