nsv4657998
- Organism: Homo sapiens
- Study:nstd185 (Puig et al. 2020)
- Variant Type:inversion
- Method Type:ddPCR
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:589,242
- Publication(s):Puig et al. 2020
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: 4570 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 4127 SVs from 112 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4657998 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000017.11 | Chr17 | 45,627,799 | 46,217,040 | ||
| nsv4657998 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 43,705,165 | 44,294,406 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181391 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181391 | Submitted genomic | NC_000017.11:g.(?_ 45627799)_(4621704 0_?)inv | GRCh38.p13 | NC_000017.11 | Chr17 | 45,627,799 | 46,217,040 | ||
| nssv16181391 | Remapped | Perfect | NC_000017.10:g.(?_ 43705165)_(4429440 6_?)inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 43,705,165 | 44,294,406 |