Variant DetailsVariant: nsv508200Internal ID | 15479876 | Landmark | | Location Information | | Cytoband | 2q35 | Allele length | Assembly | Allele length | hg38 | 67432 | hg19 | 67432 | hg18 | 67432 | hg17 | 67432 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv618706, nssv622447, nssv617470 | Samples | CHM, NA18994, NA10860 | Known Genes | CNPPD1, FAM134A, NHEJ1, SLC23A3 | 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) | nsv508200
| Frequency | Sample Size | 4 | Observed Gain | 0 | Observed Loss | 3 | Observed Complex | 0 | Frequency | n/a |
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