nsv3333292
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,482
- Publication(s):Audano et al. 2019
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: 358 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 358 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3333292 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 48,880,479 | 48,899,960 | ||
| nsv3333292 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 48,902,031 | 48,921,512 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14523343 | inversion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14523343 | Submitted genomic | NC_000011.10:g.488 80479_48899960inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,479 | 48,899,960 | ||
| nssv14523343 | Remapped | Perfect | NC_000011.9:g.4890 2031_48921512invNC _000011.9:g.489020 31_48921512inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,031 | 48,921,512 |