nsv3365061
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,715
- 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: 217 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3365061 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 86,910,661 | 86,920,375 | ||
| nsv3365061 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 87,137,784 | 87,147,498 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14623518 | deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14631613 | deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14623518 | Submitted genomic | NC_000002.12:g.869 10661_86920375del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 86,910,661 | 86,920,375 | ||
| nssv14631613 | Submitted genomic | NC_000002.12:g.869 10661_86920375del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 86,910,661 | 86,920,375 | ||
| nssv14623518 | Remapped | Perfect | NC_000002.11:g.871 37784_87147498delN C_000002.11:g.8713 7784_87147498del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,137,784 | 87,147,498 |
| nssv14631613 | Remapped | Perfect | NC_000002.11:g.871 37784_87147498delN C_000002.11:g.8713 7784_87147498del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,137,784 | 87,147,498 |