nsv4715530
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha et al. 2021
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: 233 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4715530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 12,391,919 | 12,391,920 |
| nsv4715530 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 360,922 | 360,923 |
| nsv4715530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 12,544,853 | 12,544,854 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16238347 | inversion | M478 | Sequencing | Paired-end mapping | 1 | 4,557 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16238347 | Remapped | Perfect | NW_011332696.1:g.3 60922_360923inv | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 360,922 | 360,923 |
| nssv16238347 | Remapped | Perfect | NC_000012.12:g.123 91919_12391920inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,391,919 | 12,391,920 |
| nssv16238347 | Submitted genomic | NC_000012.11:g.125 44853_12544854inv | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,544,853 | 12,544,854 |