nsv6133222
- 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:71,959
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: 365 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6133222 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 51,415,161 | 51,415,178 | 51,487,100 | 51,487,119 |
| nsv6133222 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 49,492,522 | 49,492,539 | 49,564,461 | 49,564,480 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17683007 | duplication | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17683007 | Remapped | Perfect | NC_000017.11:g.(51 415161_51415178)_( 51487100_51487119) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 51,415,161 | 51,415,178 | 51,487,100 | 51,487,119 |
| nssv17683007 | Submitted genomic | NC_000017.10:g.(49 492522_49492539)_( 49564461_49564480) dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 49,492,522 | 49,492,539 | 49,564,461 | 49,564,480 |