nsv2794380
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,513
- 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: 1588 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1605 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2794380 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 105,693,885 | 105,696,397 | ||
| nsv2794380 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 106,160,222 | 106,162,734 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13709576 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13709576 | Submitted genomic | NC_000014.9:g.1056 93885_105696397inv | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,693,885 | 105,696,397 | ||
| nssv13709576 | Remapped | Perfect | NC_000014.8:g.1061 60222_106162734inv | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,160,222 | 106,162,734 |