Variant DetailsVariant: nssv618828Internal ID | 15471946 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 467539 | hg19 | 467539 | hg18 | 517539 | hg17 | 517539 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | S | Merged Variants | nsv508496 | Supporting Variants | | Samples | NA10860 | Known Genes | DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B | 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) | nssv618828
| Frequency | Sample Size | 4 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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