nsv3338314
- 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:7,983
- 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: 520 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 520 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3338314 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 757,635 | 765,617 | ||
| nsv3338314 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 866,801 | 874,783 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14522663 | deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14527534 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14522663 | Submitted genomic | NC_000012.12:g.757 635_765617del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 757,635 | 765,617 | ||
| nssv14527534 | Submitted genomic | NC_000012.12:g.757 635_765617del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 757,635 | 765,617 | ||
| nssv14522663 | Remapped | Perfect | NC_000012.11:g.866 801_874783delNC_00 0012.11:g.866801_8 74783del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 866,801 | 874,783 |
| nssv14527534 | Remapped | Perfect | NC_000012.11:g.866 801_874783delNC_00 0012.11:g.866801_8 74783del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 866,801 | 874,783 |