nsv6132248
- 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:3,280,002
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: 7569 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 7569 SVs from 108 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6132248 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,566,217 | 48,846,218 |
| nsv6132248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 45,960,000 | 49,240,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17677670 | copy number gain | SAMN20524654 | Sequencing | Paired-end mapping | 440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17677670 | Remapped | Perfect | NC_000012.12:g.455 66217_48846218dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,566,217 | 48,846,218 |
| nssv17677670 | Submitted genomic | NC_000012.11:g.459 60000_49240001dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,960,000 | 49,240,001 |