nsv513717
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,595
- Publication(s):Arlt et al. 2011
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: 316 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 317 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv513717 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,022,495 | 40,038,089 |
| nsv513717 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 41,394,422 | 41,410,016 |
| nsv513717 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 40,316,292 | 40,331,886 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv626969 | inversion | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv626969 | Remapped | Perfect | NC_000021.9:g.(400 22495_?)_(?_400380 89)inv15595 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,022,495 | 40,038,089 |
| nssv626969 | Remapped | Perfect | NC_000021.8:g.(413 94422_?)_(?_414100 16)inv15595 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,394,422 | 41,410,016 |
| nssv626969 | Submitted genomic | NC_000021.7:g.(403 16292_?)_(?_403318 86)inv15595 | NCBI36 (hg18) | NC_000021.7 | Chr21 | 40,316,292 | 40,331,886 |