nsv5973208
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:179,910
- Description:DESC=[BREAKPOINT1]
- Publication(s):Almarri et al. 2020
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: 845 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 841 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5973208 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 103,926,471 | 104,106,380 | ||
| nsv5973208 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,181,052 | 103,351,063 |
| nsv5973208 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 62,887 | 242,796 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17440633 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17440633 | Submitted genomic | NC_000023.11:g.103 926471_104106380in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 103,926,471 | 104,106,380 | ||
| nssv17440633 | Remapped | Perfect | NW_004070885.1:g.6 2887_242796inv | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 62,887 | 242,796 |
| nssv17440633 | Remapped | Pass | NC_000023.10:g.103 181052_103351063in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,181,052 | 103,351,063 |