nsv5329478
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Chen 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: 351 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5329478 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000009.12 | Chr9 | 136,285,450 | 136,285,450 | + | ||
| nsv5329478 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000009.12 | Chr9 | 136,285,480 | 136,285,480 | + | ||
| nsv5329478 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315926.1 | Chr9|NW_00 3315926.1 | 40,407 | 40,407 | + |
| nsv5329478 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315926.1 | Chr9|NW_00 3315926.1 | 40,437 | 40,437 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16744148 | intrachromosomal translocation | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16744148 | Submitted genomic | GRCh38.p13 | NC_000009.12 | Chr9 | 136,285,450 | 136,285,450 | + | ||
| nssv16744148 | Submitted genomic | GRCh38.p13 | NC_000009.12 | Chr9 | 136,285,480 | 136,285,480 | + | ||
| nssv16744148 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003315926.1 | Chr9|NW_00 3315926.1 | 40,407 | 40,407 | + |
| nssv16744148 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003315926.1 | Chr9|NW_00 3315926.1 | 40,437 | 40,437 | + |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16744148 | 0.905 |