Variant DetailsVariant: nsv433211 Internal ID | 15031793 | Landmark | | Location Information | | Cytoband | 2q37.1 | Allele length | Assembly | Allele length | hg38 | 9543 | hg19 | 9543 | hg18 | 9543 | hg17 | 9543 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv463092 | Samples | NA18517 | Known Genes | DNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | 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) | nsv433211
| Frequency | Sample Size | 9 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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