nsv6135992
- 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:8,910,004
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: 21370 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21375 SVs from 122 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6135992 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 39,250,401 | 48,160,404 |
| nsv6135992 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 39,290,000 | 48,200,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17677401 | copy number gain | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17677401 | Remapped | Perfect | NC_000007.14:g.392 50401_48160404dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 39,250,401 | 48,160,404 |
| nssv17677401 | Submitted genomic | NC_000007.13:g.392 90000_48200001dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 39,290,000 | 48,200,001 |