Internal ID | 18957804 |
Landmark | |
Location Information | |
Cytoband | 18p11.32 |
Allele length | Assembly | Allele length | hg38 | 48680 | hg19 | 48680 |
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Variant Type | CNV duplication |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | nssv4039448 |
Samples | |
Known Genes | THOC1, USP14 |
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) | nsv1160503
|
Frequency | Sample Size | 369 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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