Variant DetailsVariant: nsv508217Internal ID | 15479893 | Landmark | | Location Information | | Cytoband | 3p21.31 | Allele length | Assembly | Allele length | hg38 | 154451 | hg19 | 154451 | hg18 | 154451 | hg17 | 154451 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv622456 | Samples | NA18994 | Known Genes | AMIGO3, APEH, BSN, GMPPB, IP6K1, MST1, RNF123 | 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) | nsv508217
| Frequency | Sample Size | 4 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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