nsv4658007
- 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:21,771
- 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: 333 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 332 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4658007 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000023.11 | ChrX | 154,591,327 | 154,613,097 | ||
| nsv4658007 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,819,590 | 153,841,350 |
| nsv4658007 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,025,306 | 2,047,076 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181401 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181401 | Submitted genomic | NC_000023.11:g.(?_ 154591327)_(154613 097_?)inv | GRCh38.p13 | NC_000023.11 | ChrX | 154,591,327 | 154,613,097 | ||
| nssv16181401 | Remapped | Perfect | NW_003871103.3:g.( ?_2025306)_(204707 6_?)inv | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,025,306 | 2,047,076 |
| nssv16181401 | Remapped | Good | NC_000023.10:g.(?_ 153819590)_(153841 350_?)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,819,590 | 153,841,350 |