nsv3374605
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,518
- 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: 402 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3374605 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 97,245,830 | 97,270,347 | ||
| nsv3374605 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 97,911,567 | 97,936,084 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14617965 | deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14617965 | Submitted genomic | NC_000002.12:g.972 45830_97270347del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 97,245,830 | 97,270,347 | ||
| nssv14617965 | Remapped | Perfect | NC_000002.11:g.979 11567_97936084delN C_000002.11:g.9791 1567_97936084del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 97,911,567 | 97,936,084 |