nsv3239147
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,250
- Description:Absence of a L1HS 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: 549 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 550 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3239147 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 11,935,066 | 11,941,315 | ||
| nsv3239147 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 11,953,185 | 11,959,434 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14377837 | line1 deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14439694 | line1 deletion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14377837 | Submitted genomic | NC_000023.11:g.119 35066_11941315del6 249 | GRCh38 (hg38) | NC_000023.11 | ChrX | 11,935,066 | 11,941,315 | ||
| nssv14439694 | Submitted genomic | NC_000023.11:g.119 35066_11941315del6 249 | GRCh38 (hg38) | NC_000023.11 | ChrX | 11,935,066 | 11,941,315 | ||
| nssv14377837 | Remapped | Perfect | NC_000023.10:g.119 53185_11959434del6 249 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 11,953,185 | 11,959,434 |
| nssv14439694 | Remapped | Perfect | NC_000023.10:g.119 53185_11959434del6 249 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 11,953,185 | 11,959,434 |