nsv3332312
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,826
- Publication(s):Audano et al. 2019
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: 272 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3332312 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 61,219,368 | 61,238,193 | ||
| nsv3332312 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 60,986,840 | 61,005,665 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14521943 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14521943 | Submitted genomic | NC_000011.10:g.612 19368_61238193del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 61,219,368 | 61,238,193 | ||
| nssv14521943 | Remapped | Perfect | NC_000011.9:g.6098 6840_61005665delNC _000011.9:g.609868 40_61005665del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 60,986,840 | 61,005,665 |