Variant DetailsVariant: nsv1160494 Internal ID | 18957896 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 370575 | hg19 | 370575 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv4039396, nssv4039393, nssv4039385, nssv4039407, nssv4039413, nssv4039384, nssv4039386, nssv4039398, nssv4039416, nssv4039426, nssv4039409, nssv4039400, nssv4039421, nssv4039390, nssv4039432, nssv4039434, nssv4039419, nssv4039424, nssv4039436, nssv4039391, nssv4039430, nssv4039429, nssv4039392, nssv4039418, nssv4039422, nssv4039405, nssv4039387, nssv4039389, nssv4039428, nssv4039404, nssv4039402, nssv4039420, nssv4039417, nssv4039395, nssv4039411, nssv4039437, nssv4039410, nssv4039431, nssv4039415, nssv4039403, nssv4039399, nssv4039435, nssv4039408, nssv4039427, nssv4039397, nssv4039401, nssv4039406, nssv4039433, nssv4039388, nssv4039383, nssv4039414, nssv4039394, nssv4039412, nssv4039425, nssv4039438, nssv4039423 | Samples | | Known Genes | ARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1 | 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) | nsv1160494
| Frequency | Sample Size | 369 | Observed Gain | 0 | Observed Loss | 56 | Observed Complex | 0 | Frequency | n/a |
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