nsv6134420
- 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:27,090,009
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: 68625 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 68777 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134420 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 116,382,424 | 143,472,432 |
| nsv6134420 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 117,140,000 | 144,230,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17677539 | copy number loss | SAMN20524654 | Sequencing | Paired-end mapping | 440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17677539 | Remapped | Perfect | NC_000002.12:g.116 382424_143472432de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 116,382,424 | 143,472,432 |
| nssv17677539 | Submitted genomic | NC_000002.11:g.117 140000_144230001de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 117,140,000 | 144,230,001 |