Variant DetailsVariant: nsv428385![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr22:16350973..17254216;width=800;overview=1) Internal ID | 18278149 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 1394763 | hg19 | 903244 | hg18 | 903244 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv453961, nssv453954, nssv453962, nssv453963, nssv453957, nssv453952, nssv453951, nssv453959, nssv453950, nssv453949, nssv453958, nssv453955, nssv453960, nssv453956 | Samples | HGDP01087, HGDP00463, HGDP01088, NA18498, HGDP00460, HGDP00473, HGDP00986, NA19181, NA19257, NA19147, HGDP01094, HGDP00472, HGDP01086, HGDP00449 | 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) | nsv428385
| Frequency | Sample Size | 62 | Observed Gain | 6 | Observed Loss | 8 | Observed Complex | 0 | Frequency | n/a |
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