nsv5990599
- 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:3,871
- 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: 635 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5990599 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 89,671,960 | 89,675,830 | ||
| nsv5990599 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000004.11 | Chr4 | 103,860,695 | 103,864,594 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17530869 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17530869 | Submitted genomic | NC_000002.12:g.896 71960_89675830del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 89,671,960 | 89,675,830 | ||
| nssv17530869 | Remapped | Good | NC_000004.11:g.103 860695_103864594de l | GRCh37.p13 | Second Pass | NC_000004.11 | Chr4 | 103,860,695 | 103,864,594 |