nsv5926733
- 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:4,294,212
- 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: 8912 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 8079 SVs from 121 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5926733 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 34,019,538 | 38,313,749 | ||
| nsv5926733 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 34,172,473 | 38,707,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17362626 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17362626 | Submitted genomic | NC_000012.12:g.340 19538_38313749del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 34,019,538 | 38,313,749 | ||
| nssv17362626 | Remapped | Pass | NC_000012.11:g.341 72473_38707551del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,172,473 | 38,707,551 |