nsv5961944
- 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:262
- 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: 284 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5961944 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 15,744,366 | 15,744,627 | ||
| nsv5961944 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 17,116,685 | 17,116,946 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17405184 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17405184 | Submitted genomic | NC_000021.9:g.1574 4366_15744627del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 15,744,366 | 15,744,627 | ||
| nssv17405184 | Remapped | Perfect | NC_000021.8:g.1711 6685_17116946del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 17,116,685 | 17,116,946 |