nsv6132050
- 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:420,002
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: 1103 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1103 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6132050 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 73,570,242 | 73,990,243 |
| nsv6132050 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 75,330,000 | 75,750,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681526 | copy number gain | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17681526 | Remapped | Perfect | NC_000010.11:g.735 70242_73990243dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 73,570,242 | 73,990,243 |
| nssv17681526 | Submitted genomic | NC_000010.10:g.753 30000_75750001dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 75,330,000 | 75,750,001 |