Internal ID | 20132624 |
Landmark | |
Location Information | |
Cytoband | 17q21.31 |
Allele length | Assembly | Allele length | hg38 | 183178 | hg19 | 183178 | hg18 | 183108 | hg17 | 183108 |
|
Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | nsv457747, nsv457749, nsv457752, nsv457750 |
Samples | 1780862592_A, NINDS_205, NINDS_66, 1780862594_A |
Known Genes | KANSL1, KANSL1-AS1 |
Method | SNP array |
Analysis | An HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives. |
Platform | Not reported |
Comments | |
Reference | Itsara_et_al_2009 |
Pubmed ID | 19166990 |
Accession Number(s) | dgv366n27
|
Frequency | Sample Size | 1557 | Observed Gain | 4 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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