nsv5378348
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Abel 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: 123 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5378348 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 30,633,936 | 30,633,936 | + | ||
| nsv5378348 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 30,635,805 | 30,635,805 | + | ||
| nsv5378348 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 30,601,713 | 30,601,713 | + |
| nsv5378348 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 30,603,582 | 30,603,582 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16496193 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16496193 | Submitted genomic | GRCh38 (hg38) | NC_000006.12 | Chr6 | 30,633,936 | 30,633,936 | + | ||
| nssv16496193 | Submitted genomic | GRCh38 (hg38) | NC_000006.12 | Chr6 | 30,635,805 | 30,635,805 | + | ||
| nssv16496193 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 30,601,713 | 30,601,713 | + |
| nssv16496193 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 30,603,582 | 30,603,582 | + |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16496193 | <0.001 | 1 | 29246 |