Variant DetailsVariant: nssv4033841Internal ID | 18951018 | Landmark | | Location Information | | Cytoband | 5q35.3 | Allele length | Assembly | Allele length | hg38 | 241371 | hg19 | 241371 |
| Variant Type | CNV duplication | Copy Number | 3 | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | nsv1161311 | Supporting Variants | | Samples | | Known Genes | DBN1, DDX41, DOK3, F12, FAM193B, GRK6, LMAN2, MXD3, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RGS14, SLC34A1 | 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) | nssv4033841
| Frequency | Sample Size | 369 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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