nsv3359639
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,094
- 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: 605 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 603 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3359639 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nsv3359639 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14657820 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14658606 | deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14664387 | deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14665691 | deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14657820 | Submitted genomic | NC_000021.9:g.2228 2581_22293674del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nssv14658606 | Submitted genomic | NC_000021.9:g.2228 2581_22293674del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nssv14664387 | Submitted genomic | NC_000021.9:g.2228 2581_22293674del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nssv14665691 | Submitted genomic | NC_000021.9:g.2228 2581_22293674del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nssv14657820 | Remapped | Perfect | NC_000021.8:g.2365 4901_23665994delNC _000021.8:g.236549 01_23665994del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |
| nssv14658606 | Remapped | Perfect | NC_000021.8:g.2365 4901_23665994delNC _000021.8:g.236549 01_23665994del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |
| nssv14664387 | Remapped | Perfect | NC_000021.8:g.2365 4901_23665994delNC _000021.8:g.236549 01_23665994del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |
| nssv14665691 | Remapped | Perfect | NC_000021.8:g.2365 4901_23665994delNC _000021.8:g.236549 01_23665994del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |