nsv6132519
- 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:3,080,003
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: 7542 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 7542 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6132519 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 91,226,223 | 94,306,225 |
| nsv6132519 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 91,620,000 | 94,700,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17677989 | copy number loss | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17677989 | Remapped | Perfect | NC_000012.12:g.912 26223_94306225del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 91,226,223 | 94,306,225 |
| nssv17677989 | Submitted genomic | NC_000012.11:g.916 20000_94700001del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 91,620,000 | 94,700,001 |