nsv3391338
- 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:7,943
- 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: 223 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3391338 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 82,125,927 | 82,133,869 | ||
| nsv3391338 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 81,421,746 | 81,429,688 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14727015 | deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14727015 | Submitted genomic | NC_000005.10:g.821 25927_82133869del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 82,125,927 | 82,133,869 | ||
| nssv14727015 | Remapped | Perfect | NC_000005.9:g.8142 1746_81429688delNC _000005.9:g.814217 46_81429688del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 81,421,746 | 81,429,688 |