Variant DetailsVariant: nssv453954Internal ID | 18274357 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 1394763 | hg19 | 903244 | hg18 | 903244 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | nsv428385 | Supporting Variants | | Samples | HGDP01094 | Known Genes | ATP6V1E1, BCL2L13, BID, CECR2, FLJ41941, GGT3P, LINC00528, MICAL3, MIR3198-1, MIR648, PEX26, SLC25A18, TUBA8, USP18 | Method | BAC aCGH | Analysis | Copy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006). | Platform | Sanger H. sapiens Whole Genome Tile Path 28.7k v3 | Comments | | Reference | Perry_et_al_2008b | Pubmed ID | 18775914 | Accession Number(s) | nssv453954
| Frequency | Sample Size | 62 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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