Internal ID | 18354909 |
Landmark | |
Location Information | |
Cytoband | 17q21.31 |
Allele length | Assembly | Allele length | hg38 | 63185 | hg19 | 63185 |
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Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | dgv943e212 |
Supporting Variants | essv9814463, essv9814465, essv9814466 |
Samples | 401265CB, 400177SJ, 401576WC |
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) | esv3573397
|
Frequency | Sample Size | 873 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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