Variant DetailsVariant: dgv543n27 Internal ID | 20132801 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 155746 | hg19 | 155746 | hg18 | 155746 | hg17 | 155746 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv459378, nsv459382, nsv459380, nsv459368, nsv459381, nsv459389, nsv459377, nsv459383, nsv459393, nsv459360, nsv459369, nsv459391, nsv459379, nsv459387, nsv459370, nsv459375, nsv459359, nsv459390, nsv459376, nsv459362, nsv459356, nsv459367, nsv459384, nsv459366, nsv459373, nsv459357, nsv459365, nsv459371, nsv459364, nsv459361, nsv459388, nsv459372 | Samples | 1780862274_A, HGDP00524, NINDS_54, NINDS_58, HGDP01379, HGDP01399, HGDP00021, 1798860010_A, 1780846004_A, HGDP00136, NINDS_56, 1780854255_A, NINDS_57, HGDP00582, HGDP01268, NINDS_197, 1780862224_A, NINDS_98, HGDP01310, HGDP00351, HGDP01050, HGDP00228, 1798860251_A, 1780854196_A, 1780854430_A, 1780862021_A, 1780862002_A, HGDP00557, 1780862195_A, HGDP00025, 1780854327_A, HGDP00737 | Known Genes | DGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH | 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) | dgv543n27
| Frequency | Sample Size | 1557 | Observed Gain | 32 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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