nsv6133371
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:250,002
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: 989 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 989 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6133371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 78,983,918 | 79,233,919 |
| nsv6133371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,980,000 | 77,230,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17683041 | copy number gain | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683041 | Remapped | Perfect | NC_000017.11:g.789 83918_79233919dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 78,983,918 | 79,233,919 |
| nssv17683041 | Submitted genomic | NC_000017.10:g.769 80000_77230001dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,980,000 | 77,230,001 |