Internal ID | 18358171 |
Landmark | |
Location Information | |
Cytoband | 9q21.11 |
Allele length | Assembly | Allele length | hg38 | 28581 | hg19 | 28581 |
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Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | dgv2156e212 |
Supporting Variants | essv9791023, essv9791026, essv9791024, essv9791021 |
Samples | 400506GN, 401281BP, 401695BT, 400598DA |
Known Genes | APBA1 |
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) | esv3576659
|
Frequency | Sample Size | 873 | Observed Gain | 4 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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