nsv3415102
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:429
- Description:Absence of a HERV insertion that is present in the reference
- 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: 590 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 576 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3415102 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,057,023 | 155,057,451 | ||
| nsv3415102 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,285,298 | 154,285,726 |
| nsv3415102 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,491,002 | 2,491,430 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14736214 | herv deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14736214 | Submitted genomic | NC_000023.11:g.155 057023_155057451de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,057,023 | 155,057,451 | ||
| nssv14736214 | Remapped | Perfect | NW_003871103.3:g.2 491002_2491430delN W_003871103.3:g.24 91002_2491430del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,491,002 | 2,491,430 |
| nssv14736214 | Remapped | Perfect | NC_000023.10:g.154 285298_154285726de lNC_000023.10:g.15 4285298_154285726d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,285,298 | 154,285,726 |