Variant DetailsVariant: nsv829660![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr1:40311291..40504667;width=800;overview=1) Internal ID | 16106843 | Landmark | | Location Information | | Cytoband | 1p34.2 | Allele length | Assembly | Allele length | hg38 | 193377 | hg19 | 193377 | hg18 | 193377 | hg17 | 193377 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv1445062, nssv1444929, nssv1444773, nssv1445096, nssv1444795, nssv1445040, nssv1444996, nssv1444740, nssv1444751, nssv1444907, nssv1444940, nssv1444762, nssv1445118, nssv1444863, nssv1444717, nssv1445129, nssv1444695, nssv1445107, nssv1444963, nssv1444728, nssv1445085, nssv1445051, nssv1444852, nssv1444839, nssv1445074, nssv1445029, nssv1444896, nssv1444706, nssv1444985, nssv1444874, nssv1444806, nssv1445018, nssv1444974, nssv1445007, nssv1444828, nssv1444885, nssv1444784, nssv1444817, nssv1444918, nssv1444951 | Samples | | Known Genes | PPT1, RLF, TMCO2, ZMPSTE24 | Method | BAC aCGH | Analysis | Experimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold. | Platform | GPL2616 | Comments | | Reference | Wong_et_al_2007 | Pubmed ID | 17160897 | Accession Number(s) | nsv829660
| Frequency | Sample Size | 95 | Observed Gain | 3 | Observed Loss | 37 | Observed Complex | 0 | Frequency | n/a |
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