Variant DetailsVariant: nsv433391 | Internal ID | 15031973 | | Landmark | | | Location Information | | | Cytoband | 7q22.1 | | Allele length | | Assembly | Allele length | | hg38 | 54646 | | hg19 | 54646 | | hg18 | 54646 | | hg17 | 54646 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | nssv463272 | | Samples | NA15510 | | Known Genes | AZGP1, AZGP1P1, ZKSCAN1 | | 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) | nsv433391
| | Frequency | | Sample Size | 9 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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