Variant DetailsVariant: dgv192n27Internal ID | 20132450 | Landmark | | Location Information | | Cytoband | 12p11.21 | Allele length | Assembly | Allele length | hg38 | 205191 | hg19 | 205191 | hg18 | 205191 | hg17 | 205191 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv469199, nsv469197, nsv469198, nsv469200, nsv469196, nsv469195 | Samples | 1782681287_A, HGDP00088, HGDP00105, HGDP00450, 1782681093_A, HGDP01386 | Known Genes | DDX11, DDX11-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) | dgv192n27
| Frequency | Sample Size | 1557 | Observed Gain | 6 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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