nsv4658002
- 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:7,402
- 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: 451 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4658002 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000023.11 | ChrX | 51,692,963 | 51,700,364 | ||
| nsv4658002 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 51,436,001 | 51,443,401 |
| nsv4658002 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1,406,078 | 1,413,479 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181393 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181393 | Submitted genomic | NC_000023.11:g.(?_ 51692963)_(5170036 4_?)inv | GRCh38.p13 | NC_000023.11 | ChrX | 51,692,963 | 51,700,364 | ||
| nssv16181393 | Remapped | Perfect | NW_004070877.1:g.( ?_1406078)_(141347 9_?)inv | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1,406,078 | 1,413,479 |
| nssv16181393 | Remapped | Good | NC_000023.10:g.(?_ 51436001)_(5144340 1_?)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 51,436,001 | 51,443,401 |