nsv3379632
- 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:21,279
- 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: 399 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3379632 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 177,546,054 | 177,567,332 | ||
| nsv3379632 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 178,467,208 | 178,488,486 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14693927 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14693927 | Submitted genomic | NC_000004.12:g.177 546054_177567332de l | GRCh38 (hg38) | NC_000004.12 | Chr4 | 177,546,054 | 177,567,332 | ||
| nssv14693927 | Remapped | Perfect | NC_000004.11:g.178 467208_178488486de lNC_000004.11:g.17 8467208_178488486d el | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 178,467,208 | 178,488,486 |