nsv5665690
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,579
- Publication(s):Ebert et al. 2021
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: 578 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5665690 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 10,002 | 47,580 | ||
| nsv5665690 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 2 | 37,580 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17127309 | inversion | SAMN00006579 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17127309 | Submitted genomic | NC_000004.12:g.100 02_47580inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 10,002 | 47,580 | ||
| nssv17127309 | Remapped | Perfect | NW_004775427.1:g.2 _37580inv | GRCh37.p13 | First Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 2 | 37,580 |