Variant DetailsVariant: nsv508367Internal ID | 15480043 | Landmark | | Location Information | | Cytoband | 5q13.2 | Allele length | Assembly | Allele length | hg38 | 771077 | hg19 | 771077 | hg18 | 771077 | hg17 | 771077 |
| Variant Type | CNV deletion | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv618773, nssv618770, nssv622525, nssv619959 | Samples | NA15510, NA18994, NA10860 | Known Genes | GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2 | 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) | nsv508367
| Frequency | Sample Size | 4 | Observed Gain | 0 | Observed Loss | 3 | Observed Complex | 0 | Frequency | n/a |
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