nsv6134408
- 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:70,002
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: 323 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 323 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134408 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 138,091,158 | 138,161,159 |
| nsv6134408 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 137,810,000 | 137,880,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681601 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17681601 | Remapped | Perfect | NC_000003.12:g.138 091158_138161159de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 138,091,158 | 138,161,159 |
| nssv17681601 | Submitted genomic | NC_000003.11:g.137 810000_137880001de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 137,810,000 | 137,880,001 |