nsv4658004
- 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:9,851
- 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: 508 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4658004 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 240,682,451 | 240,692,301 | ||
| nsv4658004 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 241,621,868 | 241,631,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181384 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181384 | Submitted genomic | NC_000002.12:g.(?_ 240682451)_(240692 301_?)inv | GRCh38.p13 | NC_000002.12 | Chr2 | 240,682,451 | 240,692,301 | ||
| nssv16181384 | Remapped | Perfect | NC_000002.11:g.(?_ 241621868)_(241631 718_?)inv | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 241,621,868 | 241,631,718 |