nsv3411714
- 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:94
- 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: 576 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 577 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3411714 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 5,302,593 | 5,302,686 | ||
| nsv3411714 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 5,220,634 | 5,220,727 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14808795 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14812032 | deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14808795 | Submitted genomic | NC_000023.11:g.530 2593_5302686del | GRCh38 (hg38) | NC_000023.11 | ChrX | 5,302,593 | 5,302,686 | ||
| nssv14812032 | Submitted genomic | NC_000023.11:g.530 2593_5302686del | GRCh38 (hg38) | NC_000023.11 | ChrX | 5,302,593 | 5,302,686 | ||
| nssv14808795 | Remapped | Perfect | NC_000023.10:g.522 0634_5220727delNC_ 000023.10:g.522063 4_5220727del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 5,220,634 | 5,220,727 |
| nssv14812032 | Remapped | Perfect | NC_000023.10:g.522 0634_5220727delNC_ 000023.10:g.522063 4_5220727del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 5,220,634 | 5,220,727 |