nsv5672219
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77
- 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: 451 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672219 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,547,139 | 148,547,215 | ||
| nsv5672219 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,628,660 | 147,628,736 |
| nsv5672219 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,071,533 | 4,071,609 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17166483 | deletion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17166483 | Submitted genomic | NC_000023.11:g.148 547139_148547215de lT | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,547,139 | 148,547,215 | ||
| nssv17166483 | Remapped | Perfect | NW_004070890.2:g.4 071533_4071609delT | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,071,533 | 4,071,609 |
| nssv17166483 | Remapped | Perfect | NC_000023.10:g.147 628660_147628736de lT | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,628,660 | 147,628,736 |