Variant DetailsVariant: nsv471606 | Internal ID | 15214425 | | Landmark | | | Location Information | | | Cytoband | Xq27.2 | | Allele length | | Assembly | Allele length | | hg38 | 168412 | | hg19 | 168527 | | hg18 | 168527 | | hg16 | 168527 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv549481, nssv549476, nssv549483, nssv549499, nssv549496, nssv549500, nssv549493, nssv549473, nssv549477, nssv549487, nssv549480, nssv549478, nssv549494, nssv549488, nssv549492, nssv549479, nssv549486, nssv549498, nssv549495, nssv549484, nssv549497, nssv549489, nssv549475, nssv549474, nssv549491, nssv549482, nssv549490, nssv549485 | | Samples | NA15732, NA10469, P86GA, NA17059, NA17058, NA10473, NA10496, NA17015, NA15727, NA15733, NA11521, NA15731, NA10470, NA17052, NA10979, NA11523, NA10471, NA10472, NA10967, JK1061, NA10494, NA17017, NA17051, NA15729, NA15730, NA16688, NA10493, NA11323 | | Known Genes | SPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE | | Method | BAC aCGH | | Analysis | Array image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant. | | Platform | GPL4010 | | Comments | | | Reference | Sharp_et_al_2005 | | Pubmed ID | 15918152 | | Accession Number(s) | nsv471606
| | Frequency | | Sample Size | 48 | | Observed Gain | 28 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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