Variant DetailsVariant: dgv621n27Internal ID | 20132879 | Landmark | | Location Information | | Cytoband | 3q25.1 | Allele length | Assembly | Allele length | hg38 | 44493 | hg19 | 44493 | hg18 | 44493 | hg17 | 44493 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv460910, nsv460897, nsv460898, nsv460905, nsv460896, nsv460901, nsv460900, nsv460904, nsv460907, nsv460903, nsv460902 | Samples | 1780854354_A, 1798860292_A, 1780854573_A, 1798860306_A, NINDS_240, NINDS_113, NINDS_251, HGDP01373, NINDS_268, 1780854295_A, 1780854058_A | Known Genes | AADAC, MIR548H2 | 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) | dgv621n27
| Frequency | Sample Size | 1557 | Observed Gain | 0 | Observed Loss | 11 | Observed Complex | 0 | Frequency | n/a |
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