nsv3325188
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,538
- Publication(s):Audano et al. 2019
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: 646 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 646 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3325188 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 72,289,849 | 72,298,386 | ||
| nsv3325188 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 72,755,532 | 72,764,069 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14473319 | deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14474531 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14473319 | Submitted genomic | NC_000001.11:g.722 89849_72298386del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 72,289,849 | 72,298,386 | ||
| nssv14474531 | Submitted genomic | NC_000001.11:g.722 89849_72298386del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 72,289,849 | 72,298,386 | ||
| nssv14473319 | Remapped | Perfect | NC_000001.10:g.727 55532_72764069delN C_000001.10:g.7275 5532_72764069del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,755,532 | 72,764,069 |
| nssv14474531 | Remapped | Perfect | NC_000001.10:g.727 55532_72764069delN C_000001.10:g.7275 5532_72764069del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 72,755,532 | 72,764,069 |