nsv5946847
- 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:413,726
- 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: 4412 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 4411 SVs from 112 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5946847 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 42,846,295 | 43,260,020 | ||
| nsv5946847 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 43,350,447 | 43,764,172 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17403547 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17403547 | Submitted genomic | NC_000019.10:g.428 46295_43260020del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 42,846,295 | 43,260,020 | ||
| nssv17403547 | Remapped | Perfect | NC_000019.9:g.4335 0447_43764172del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,350,447 | 43,764,172 |