nsv2791838
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,859
- Publication(s):Huddleston et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 245 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2791838 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 12,391,832 | 12,393,690 | ||
| nsv2791838 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 12,544,766 | 12,546,624 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13708836 | inversion | SAMN03255769 | Sequencing | Local sequence assembly | 46 |
| nssv13710337 | inversion | SAMN02744161 | Sequencing | Local sequence assembly | 47 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13708836 | Submitted genomic | NC_000012.12:g.123 91832_12393690inv | GRCh38 (hg38) | NC_000012.12 | Chr12 | 12,391,832 | 12,393,690 | ||
| nssv13710337 | Submitted genomic | NC_000012.12:g.123 91832_12393690inv | GRCh38 (hg38) | NC_000012.12 | Chr12 | 12,391,832 | 12,393,690 | ||
| nssv13708836 | Remapped | Perfect | NC_000012.11:g.125 44766_12546624inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 12,544,766 | 12,546,624 |
| nssv13710337 | Remapped | Perfect | NC_000012.11:g.125 44766_12546624inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 12,544,766 | 12,546,624 |