Variant DetailsVariant: dgv89n17![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr4:69086425..69130929;width=800;overview=1) Internal ID | 20131655 | Landmark | | Location Information | | Cytoband | 4q13.2 | Allele length | Assembly | Allele length | hg38 | 44505 | hg19 | 44505 | hg18 | 44505 | hg16 | 44505 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv436940, nsv436939 | Samples | NA12801, NA12707 | Known Genes | UGT2B17 | Method | SNP array | Analysis | Our algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F. | Platform | Not reported | Comments | | Reference | Conrad_et_al_2006 | Pubmed ID | 16327808 | Accession Number(s) | dgv89n17
| Frequency | Sample Size | 60 | Observed Gain | 0 | Observed Loss | 2 | Observed Complex | 0 | Frequency | n/a |
|
|