nsv6134545
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,080,014
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: 68510 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 68511 SVs from 134 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,762,861 | 74,842,874 |
| nsv6134545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 47,990,000 | 75,070,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681409 | copy number loss | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
| nssv17681853 | copy number loss | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17681409 | Remapped | Perfect | NC_000002.12:g.477 62861_74842874del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,762,861 | 74,842,874 |
| nssv17681853 | Remapped | Perfect | NC_000002.12:g.477 62861_74842874del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,762,861 | 74,842,874 |
| nssv17681409 | Submitted genomic | NC_000002.11:g.479 90000_75070001del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,990,000 | 75,070,001 | ||
| nssv17681853 | Submitted genomic | NC_000002.11:g.479 90000_75070001del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,990,000 | 75,070,001 |