nsv6133221
- 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:71,953
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6133221 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 51,415,159 | 51,415,170 | 51,487,102 | 51,487,111 |
| nsv6133221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 49,492,520 | 49,492,531 | 49,564,463 | 49,564,472 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17679419 | duplication | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17679419 | Remapped | Perfect | NC_000017.11:g.(51 415159_51415170)_( 51487102_51487111) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 51,415,159 | 51,415,170 | 51,487,102 | 51,487,111 |
| nssv17679419 | Submitted genomic | NC_000017.10:g.(49 492520_49492531)_( 49564463_49564472) dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 49,492,520 | 49,492,531 | 49,564,463 | 49,564,472 |