Variant DetailsVariant: nsv428336Internal ID | 18278100 | Landmark | | Location Information | | Cytoband | 17p11.2 | Allele length | Assembly | Allele length | hg38 | 361496 | hg19 | 361496 | hg18 | 361364 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv453351, nssv453347, nssv453349, nssv453358, nssv453346, nssv453356, nssv453355, nssv453350, nssv453348, nssv453357, nssv453354 | Samples | HGDP00462, HGDP00463, NA18498, HGDP00450, HGDP00467, NA19108, NA19147, HGDP00984, HGDP00472, NA19096, HGDP00478 | Known Genes | EPN2, EPN2-IT1, FAM83G, GRAP, GRAPL, PRPSAP2, SLC5A10 | Method | BAC aCGH | Analysis | Copy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006). | Platform | Sanger H. sapiens Whole Genome Tile Path 28.7k v3 | Comments | | Reference | Perry_et_al_2008b | Pubmed ID | 18775914 | Accession Number(s) | nsv428336
| Frequency | Sample Size | 62 | Observed Gain | 9 | Observed Loss | 2 | Observed Complex | 0 | Frequency | n/a |
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