nsv2803910
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,236
- Publication(s):Huddleston et al. 2016
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: 315 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2803910 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nsv2803910 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13703220 | inversion | SAMN03255769 | Sequencing | Local sequence assembly | 46 |
| nssv13705162 | inversion | SAMN02744161 | Sequencing | Local sequence assembly | 47 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13703220 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv13705162 | Submitted genomic | NC_000021.9:g.4002 2914_40039149inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 40,022,914 | 40,039,149 | ||
| nssv13703220 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |
| nssv13705162 | Remapped | Perfect | NC_000021.8:g.4139 4841_41411076inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,841 | 41,411,076 |