nsv5326238
- 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: 104 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5326238 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 117,082,921 | 117,082,921 | + | ||
| nsv5326238 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 117,083,536 | 117,083,536 | + | ||
| nsv5326238 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 117,520,726 | 117,520,726 | + |
| nsv5326238 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 117,521,341 | 117,521,341 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16754971 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16754971 | Submitted genomic | GRCh38.p13 | NC_000012.12 | Chr12 | 117,082,921 | 117,082,921 | + | ||
| nssv16754971 | Submitted genomic | GRCh38.p13 | NC_000012.12 | Chr12 | 117,083,536 | 117,083,536 | + | ||
| nssv16754971 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 117,520,726 | 117,520,726 | + |
| nssv16754971 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 117,521,341 | 117,521,341 | + |
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) |
|---|---|
| nssv16754971 | 0.009 |