nsv3389332
- 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:19,019
- 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: 360 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3389332 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 78,170,141 | 78,189,159 | ||
| nsv3389332 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,879,858 | 78,898,876 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14713767 | deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14713767 | Submitted genomic | NC_000006.12:g.781 70141_78189159del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 78,170,141 | 78,189,159 | ||
| nssv14713767 | Remapped | Perfect | NC_000006.11:g.788 79858_78898876delN C_000006.11:g.7887 9858_78898876del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,879,858 | 78,898,876 |