nsv5672068
- 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:36,947
- 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: 647 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 637 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672068 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,347,666 | 154,384,612 | ||
| nsv5672068 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,576,034 | 153,612,972 |
| nsv5672068 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,781,645 | 1,818,591 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17166283 | inversion | SAMN00006466 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 4,625 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17166283 | Submitted genomic | NC_000023.11:g.154 347666_154384612in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,347,666 | 154,384,612 | ||
| nssv17166283 | Remapped | Perfect | NW_003871103.3:g.1 781645_1818591inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,781,645 | 1,818,591 |
| nssv17166283 | Remapped | Good | NC_000023.10:g.153 576034_153612972in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,576,034 | 153,612,972 |