nsv3367411
- 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:3,870
- 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: 635 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3367411 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 89,671,962 | 89,675,831 | ||
| nsv3367411 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000004.11 | Chr4 | 103,860,694 | 103,864,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14624613 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14624613 | Submitted genomic | NC_000002.12:g.896 71962_89675831del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 89,671,962 | 89,675,831 | ||
| nssv14624613 | Remapped | Good | NC_000004.11:g.103 860694_103864592de lNC_000004.11:g.10 3860694_103864592d el | GRCh37.p13 | Second Pass | NC_000004.11 | Chr4 | 103,860,694 | 103,864,592 |