Variant DetailsVariant: dgv698n27 Internal ID | 20132956 | Landmark | | Location Information | | Cytoband | 5p13.3 | Allele length | Assembly | Allele length | hg38 | 68148 | hg19 | 68148 | hg18 | 68148 | hg17 | 68148 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv462097, nsv462105, nsv462109, nsv462089, nsv462101, nsv462099, nsv462102, nsv462096, nsv462104, nsv462094, nsv462093, nsv462108, nsv462110, nsv462091, nsv462092, nsv462107, nsv462098, nsv462100, nsv462090, nsv462103, nsv462111 | Samples | HGDP01340, HGDP01247, HGDP01212, HGDP00001, HGDP01401, HGDP00597, HGDP01184, HGDP01191, HGDP01356, HGDP00755, HGDP00750, HGDP00519, HGDP01187, HGDP00884, HGDP00351, HGDP01246, HGDP00029, HGDP01349, HGDP01156, HGDP00025, HGDP01147 | Known Genes | GOLPH3, PDZD2 | 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) | dgv698n27
| Frequency | Sample Size | 1557 | Observed Gain | 21 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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