nsv3393989
- 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:13,861
- 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: 201 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3393989 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 198,165,031 | 198,178,891 | ||
| nsv3393989 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 197,891,902 | 197,905,762 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14686335 | deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14686335 | Submitted genomic | NC_000003.12:g.198 165031_198178891de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 198,165,031 | 198,178,891 | ||
| nssv14686335 | Remapped | Perfect | NC_000003.11:g.197 891902_197905762de lNC_000003.11:g.19 7891902_197905762d el | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 197,891,902 | 197,905,762 |