nsv3402471
- 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:6,973
- 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: 163 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3402471 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 14,058,337 | 14,065,309 | ||
| nsv3402471 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 14,097,962 | 14,104,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14739710 | inversion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14739710 | Submitted genomic | NC_000007.14:g.140 58337_14065309inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 14,058,337 | 14,065,309 | ||
| nssv14739710 | Remapped | Perfect | NC_000007.13:g.140 97962_14104934invN C_000007.13:g.1409 7962_14104934inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 14,097,962 | 14,104,934 |