nsv3400084
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,989
- 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: 230 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3400084 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 85,737,417 | 85,742,405 | ||
| nsv3400084 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 86,749,646 | 86,754,634 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14776745 | inversion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14776745 | Submitted genomic | NC_000008.11:g.857 37417_85742405inv | GRCh38 (hg38) | NC_000008.11 | Chr8 | 85,737,417 | 85,742,405 | ||
| nssv14776745 | Remapped | Perfect | NC_000008.10:g.867 49646_86754634invN C_000008.10:g.8674 9646_86754634inv | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 86,749,646 | 86,754,634 |