nsv5668677
- 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:31,375
- 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: 445 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5668677 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 102,317,110 | 102,348,484 | ||
| nsv5668677 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 101,572,067 | 101,603,407 |
| nsv5668677 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070884.1 | ChrX|NW_00 4070884.1 | 188,968 | 220,342 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17165003 | inversion | SAMN00006580 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17165003 | Submitted genomic | NC_000023.11:g.102 317110_102348484in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 102,317,110 | 102,348,484 | ||
| nssv17165003 | Remapped | Perfect | NW_004070884.1:g.1 88968_220342inv | GRCh37.p13 | First Pass | NW_004070884.1 | ChrX|NW_00 4070884.1 | 188,968 | 220,342 |
| nssv17165003 | Remapped | Good | NC_000023.10:g.101 572067_101603407in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 101,572,067 | 101,603,407 |