nsv5934485
- 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:155
- 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: 105 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5934485 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 54,103,782 | 54,103,936 | ||
| nsv5934485 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 78,149 | 78,303 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17402230 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17402230 | Submitted genomic | NC_000019.10:g.541 03782_54103936del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 54,103,782 | 54,103,936 | ||
| nssv17402230 | Remapped | Perfect | NW_004166865.1:g.7 8149_78303del | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 78,149 | 78,303 |