Variant DetailsVariant: dgv9n27 Internal ID | 20132267 | Landmark | | Location Information | | Cytoband | 1p36.21 | Allele length | Assembly | Allele length | hg38 | 53443 | hg19 | 53148 | hg18 | 53148 | hg17 | 53148 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv459973, nsv468171, nsv460272, nsv459773, nsv468060, nsv459962, nsv459951, nsv468394, nsv467838, nsv459884, nsv459939, nsv468949, nsv469060, nsv469282, nsv459995, nsv460106, nsv467949, nsv457107, nsv458218, nsv459984, nsv468282, nsv455663 | Samples | HGDP00262, 1780862294_A, HGDP01033, HGDP01399, HGDP00021, HGDP00560, HGDP00072, NINDS_208, HGDP01103, 1780854260_A, 1780862487_A, 1782681216_A, 1780854261_A, 1798860565_A, 1780862085_A, HGDP00572, 1780846321_A, HGDP00714, 1780854362_A, 1780854128_A, HGDP01317, HGDP01251 | Known Genes | HNRNPCL1, LOC649330, PRAMEF11 | 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) | dgv9n27
| Frequency | Sample Size | 1557 | Observed Gain | 22 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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