nsv4657999
- 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:89,290
- 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: 522 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 519 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4657999 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000023.11 | ChrX | 52,079,317 | 52,168,606 | ||
| nsv4657999 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 51,822,413 | 51,911,702 |
| nsv4657999 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1,792,432 | 1,881,721 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181394 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181394 | Submitted genomic | NC_000023.11:g.(?_ 52079317)_(5216860 6_?)inv | GRCh38.p13 | NC_000023.11 | ChrX | 52,079,317 | 52,168,606 | ||
| nssv16181394 | Remapped | Perfect | NW_004070877.1:g.( ?_1792432)_(188172 1_?)inv | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1,792,432 | 1,881,721 |
| nssv16181394 | Remapped | Perfect | NC_000023.10:g.(?_ 51822413)_(5191170 2_?)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 51,822,413 | 51,911,702 |