Variant DetailsVariant: dgv471n27Internal ID | 20132729 | Landmark | | Location Information | | Cytoband | 2q13 | Allele length | Assembly | Allele length | hg38 | 152876 | hg19 | 152876 | hg18 | 152876 | hg17 | 152876 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv458785, nsv458762 | Samples | HGDP01336, HGDP00587 | Known Genes | LINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1 | 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) | dgv471n27
| Frequency | Sample Size | 1557 | Observed Gain | 2 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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