Variant DetailsVariant: nsv1160553Internal ID | 18956603 | Landmark | | Location Information | | Cytoband | 19p13.3 | Allele length | Assembly | Allele length | hg38 | 323540 | hg19 | 323540 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv134n111 | Supporting Variants | nssv4032644 | Samples | | Known Genes | ARID3A, AZU1, CFD, ELANE, FGF22, FSTL3, HCN2, KISS1R, LPPR3, MED16, MIR3187, MIR4745, MISP, PALM, POLRMT, PRSS57, PRTN3, PTBP1, R3HDM4, RNF126 | Method | SNP array | Analysis | 1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation. | Platform | Affymetrix SNP Array 6.0 | Comments | | Reference | Lou_et_al_2015 | Pubmed ID | 26073780 | Accession Number(s) | nsv1160553
| Frequency | Sample Size | 369 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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