nsv6136088
- 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:53,232
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: 203 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6136088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 70,295,333 | 70,295,348 | 70,348,548 | 70,348,564 |
| nsv6136088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 72,910,249 | 72,910,264 | 72,963,464 | 72,963,480 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681104 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17681104 | Remapped | Perfect | NC_000009.12:g.(70 295333_70295348)_( 70348548_70348564) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 70,295,333 | 70,295,348 | 70,348,548 | 70,348,564 |
| nssv17681104 | Submitted genomic | NC_000009.11:g.(72 910249_72910264)_( 72963464_72963480) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 72,910,249 | 72,910,264 | 72,963,464 | 72,963,480 |