Variant DetailsVariant: nsv469560![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr22:16938777..17076737;width=800;overview=1) Internal ID | 15187589 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 137960 | hg19 | 137961 | hg18 | 137961 | hg16 | 137961 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv1673546, nssv1675467, nssv1676665, nssv1674111, nssv1676077, nssv1673852, nssv1675369, nssv1675760, nssv1673294, nssv1675451, nssv1676410, nssv1674058, nssv1676568, nssv1675861, nssv1675360, nssv1674530, nssv1674417, nssv1676341, nssv1672885, nssv1674810, nssv1675024, nssv1675115, nssv1675758, nssv1674393, nssv1673977, nssv1676374, nssv1674104, nssv1674164, nssv1672997, nssv1673336, nssv1675615, nssv1672178, nssv1675302, nssv1672545, nssv1675963, nssv1676135 | Samples | | Known Genes | PEX26, TUBA8, USP18 | Method | BAC aCGH | Analysis | A locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments. | Platform | GPL4010 | Comments | | Reference | Locke_et_al_2006 | Pubmed ID | 16826518 | Accession Number(s) | nsv469560
| Frequency | Sample Size | 265 | Observed Gain | 36 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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