Variant DetailsVariant: dgv79n17Internal ID | 20131645 | Landmark | | Location Information | | Cytoband | 3q28 | Allele length | Assembly | Allele length | hg38 | 9486 | hg19 | 9486 | hg18 | 9486 | hg16 | 9486 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv437354, nsv437353 | Samples | NA19194, NA19161 | Known Genes | CCDC50 | 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) | dgv79n17
| Frequency | Sample Size | 60 | Observed Gain | 0 | Observed Loss | 2 | Observed Complex | 0 | Frequency | n/a |
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