Variant DetailsVariant: nsv509482Internal ID | 15476980 | Landmark | | Location Information | | Cytoband | 12q24.31 | Allele length | Assembly | Allele length | hg38 | 3315 | hg19 | 3315 | hg18 | 3315 | hg17 | 3315 |
| Variant Type | CNV insertion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv620979, nssv623634 | Samples | NA15510, NA18994 | Known Genes | COX6A1, DYNLL1, DYNLL1-AS1, GATC, SRSF9, TRIAP1 | Method | Optical mapping | Analysis | Single-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence. | Platform | Optical Mapping | Comments | | Reference | Teague_et_al_2010 | Pubmed ID | 20534489 | Accession Number(s) | nsv509482
| Frequency | Sample Size | 4 | Observed Gain | 2 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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