nsv5989161
- Organism: Homo sapiens
- Study:nstd212 (Wu et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:297,507
- Publication(s):Wu et al. 2021
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: 899 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 899 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5989161 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 41,288,757 | 41,586,263 | ||
| nsv5989161 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 41,515,897 | 41,813,403 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17520748 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17520748 | Submitted genomic | NC_000002.12:g.412 88757_41586263dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 41,288,757 | 41,586,263 | ||
| nssv17520748 | Remapped | Perfect | NC_000002.11:g.415 15897_41813403dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 41,515,897 | 41,813,403 |