nsv5946136
- 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:100
- 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: 109 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5946136 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 54,101,312 | 54,101,411 | ||
| nsv5946136 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 75,679 | 75,778 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17400791 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17400791 | Submitted genomic | NC_000019.10:g.541 01312_54101411del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 54,101,312 | 54,101,411 | ||
| nssv17400791 | Remapped | Perfect | NW_004166865.1:g.7 5679_75778del | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 75,679 | 75,778 |