nsv4658003
- 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:6,777
- 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: 126 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4658003 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 149,843,518 | 149,850,294 | ||
| nsv4658003 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,815,085 | 149,821,861 |
| nsv4658003 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,658,931 | 6,665,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181383 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181383 | Submitted genomic | NC_000001.11:g.(?_ 149843518)_(149850 294_?)inv | GRCh38.p13 | NC_000001.11 | Chr1 | 149,843,518 | 149,850,294 | ||
| nssv16181383 | Remapped | Perfect | NW_003871055.3:g.( ?_6658931)_(666570 7_?)inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,658,931 | 6,665,707 |
| nssv16181383 | Remapped | Perfect | NC_000001.10:g.(?_ 149815085)_(149821 861_?)inv | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,815,085 | 149,821,861 |