Variant DetailsVariant: dgv6n14 Internal ID | 20131395 | Landmark | | Location Information | | Cytoband | 11q11 | Allele length | Assembly | Allele length | hg38 | 85035 | hg19 | 85035 | hg18 | 85035 | hg17 | 85035 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv433266, nsv433268, nsv433517, nsv433516, nsv433267 | Samples | NA12878, NA18956, NA15510, NA18555, NA19129 | Known Genes | OR4C11, OR4C6, OR4P4, OR4S2 | Method | SNP array | Analysis | Large CNV discovery was accomplished by using HMMSeg, considering both the `LogR ratio' and `B-allele frequency' data for each sample simultaneously. We used a four-state model, one each for null (homozygous deletion), hemizygous deletion, diploid and amplification. Initial segmentation results were merged and filtered, requiring all variants to be larger than 1 kb in length and to span at least 10 probes for amplifications or hemizygous deletions, or 3 probes for homozygous deletions. We then used a combination of paired-end sequence maps, oligo array-CGH, and variant resequencing (described in Kidd et al. 2008) to support the calls. | Platform | Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) | Comments | | Reference | Cooper_et_al_2008 | Pubmed ID | 18776910 | Accession Number(s) | dgv6n14
| Frequency | Sample Size | 9 | Observed Gain | 0 | Observed Loss | 5 | Observed Complex | 0 | Frequency | n/a |
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