Variant DetailsVariant: nsv471388Internal ID | 15211868 | Landmark | | Location Information | | Cytoband | 16p11.2 | Allele length | Assembly | Allele length | hg38 | 3664 | hg19 | 3664 | hg18 | 3664 | hg17 | 3664 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv548138, nssv548139, nssv548137 | Samples | NA18507, YH, JDW | Known Genes | BOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4 | Method | Sequencing | Analysis | Using absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH. | Platform | Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen | Comments | GIYD1 | Reference | Alkan_et_al_2009 | Pubmed ID | 19718026 | Accession Number(s) | nsv471388
| Frequency | Sample Size | 3 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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