nsv3231695
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,065
- 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: 174 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3231695 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 93,136,624 | 93,142,688 | ||
| nsv3231695 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 92,869,790 | 92,875,854 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14389100 | line1 deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14418890 | line1 deletion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14444576 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14389100 | Submitted genomic | NC_000011.10:g.931 36624_93142688del6 064 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 93,136,624 | 93,142,688 | ||
| nssv14418890 | Submitted genomic | NC_000011.10:g.931 36624_93142688del6 064 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 93,136,624 | 93,142,688 | ||
| nssv14444576 | Submitted genomic | NC_000011.10:g.931 36624_93142688del6 064 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 93,136,624 | 93,142,688 | ||
| nssv14389100 | Remapped | Perfect | NC_000011.9:g.9286 9790_92875854del60 64 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 92,869,790 | 92,875,854 |
| nssv14418890 | Remapped | Perfect | NC_000011.9:g.9286 9790_92875854del60 64 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 92,869,790 | 92,875,854 |
| nssv14444576 | Remapped | Perfect | NC_000011.9:g.9286 9790_92875854del60 64 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 92,869,790 | 92,875,854 |