nsv6134929
- 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:460,002
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: 1452 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1452 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 20,778,377 | 21,238,378 |
| nsv6134929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 20,780,000 | 21,240,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17679787 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17679787 | Remapped | Perfect | NC_000004.12:g.207 78377_21238378del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,778,377 | 21,238,378 |
| nssv17679787 | Submitted genomic | NC_000004.11:g.207 80000_21240001del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 20,780,000 | 21,240,001 |