nsv6137493
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
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: 128 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6137493 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 11,372,388 | 11,372,388 | + |
| nsv6137493 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 26,622,858 | 26,622,858 | + |
| nsv6137493 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 110,476 | 110,476 | + |
| nsv6137493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 11,432,445 | 11,432,445 | + | ||
| nsv6137493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 26,949,349 | 26,949,349 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17679145 | intrachromosomal translocation | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv17679145 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646195.1 | Chr1|NW_00 9646195.1 | 110,476 | 110,476 | + |
| nssv17679145 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 11,372,388 | 11,372,388 | + |
| nssv17679145 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 26,622,858 | 26,622,858 | + |
| nssv17679145 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 11,432,445 | 11,432,445 | + | ||
| nssv17679145 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 26,949,349 | 26,949,349 | + |