nsv6134495
- 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:1,200,002
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: 2586 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2586 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 134,932,430 | 136,132,431 |
| nsv6134495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 135,690,000 | 136,890,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678172 | copy number loss | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678172 | Remapped | Perfect | NC_000002.12:g.134 932430_136132431de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 134,932,430 | 136,132,431 |
| nssv17678172 | Submitted genomic | NC_000002.11:g.135 690000_136890001de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 135,690,000 | 136,890,001 |