nsv5869478
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,903
- 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: 446 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5869478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,772,988 | 148,776,890 | ||
| nsv5869478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,854,512 | 147,858,414 |
| nsv5869478 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,297,385 | 4,301,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17436816 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17436816 | Submitted genomic | NC_000023.11:g.148 772988_148776890de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,772,988 | 148,776,890 | ||
| nssv17436816 | Remapped | Perfect | NW_004070890.2:g.4 297385_4301287del | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,297,385 | 4,301,287 |
| nssv17436816 | Remapped | Perfect | NC_000023.10:g.147 854512_147858414de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,854,512 | 147,858,414 |