nsv5946586
- 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:55
- 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: 90 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5946586 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 51,339,840 | 51,339,894 | ||
| nsv5946586 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 51,843,094 | 51,843,148 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17396551 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17396551 | Submitted genomic | NC_000019.10:g.513 39840_51339894del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 51,339,840 | 51,339,894 | ||
| nssv17396551 | Remapped | Perfect | NC_000019.9:g.5184 3094_51843148del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 51,843,094 | 51,843,148 |