nsv3279053
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,261
- Description:Absence of a SVA mobile element insertion that is present in the reference
- Publication(s):Chaisson 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: 301 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3279053 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,148,851 | 20,152,111 | ||
| nsv3279053 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 20,259,660 | 20,262,920 |
| nsv3279053 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 66,104 | 69,364 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14406227 | sva deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14406227 | Submitted genomic | NC_000019.10:g.201 48851_20152111del3 260 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,148,851 | 20,152,111 | ||
| nssv14406227 | Remapped | Perfect | NW_003571053.2:g.6 6104_69364del3260 | GRCh37.p13 | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 66,104 | 69,364 |
| nssv14406227 | Remapped | Perfect | NC_000019.9:g.2025 9660_20262920del32 60 | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 20,259,660 | 20,262,920 |