nsv5918191
- 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:72
- 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: 1055 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1055 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5918191 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 39,387,045 | 39,387,116 | ||
| nsv5918191 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 39,244,564 | 39,244,635 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17446171 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17446171 | Submitted genomic | NC_000008.11:g.393 87045_39387116del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 39,387,045 | 39,387,116 | ||
| nssv17446171 | Remapped | Perfect | NC_000008.10:g.392 44564_39244635del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,244,564 | 39,244,635 |