nsv3386984
- 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:20,903
- 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: 179 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3386984 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 113,391,175 | 113,412,077 | ||
| nsv3386984 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 114,312,331 | 114,333,233 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14696392 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14696392 | Submitted genomic | NC_000004.12:g.113 391175_113412077in v | GRCh38 (hg38) | NC_000004.12 | Chr4 | 113,391,175 | 113,412,077 | ||
| nssv14696392 | Remapped | Perfect | NC_000004.11:g.114 312331_114333233in vNC_000004.11:g.11 4312331_114333233i nv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 114,312,331 | 114,333,233 |