nsv5181369
- Organism: Homo sapiens
- Study:nstd203 (Borges-Monroy et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18
- Publication(s):Borges-Monroy et al. 2021
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: 435 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 433 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5181369 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 50,380,715 | 50,380,732 | ||
| nsv5181369 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 50,123,713 | 50,123,730 |
| nsv5181369 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 93,830 | 93,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16716898 | alu insertion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16716898 | Submitted genomic | NC_000023.11:g.503 80715_50380732ins1 51 | GRCh38 (hg38) | NC_000023.11 | ChrX | 50,380,715 | 50,380,732 | ||
| nssv16716898 | Remapped | Perfect | NW_004070877.1:g.9 3830_93847ins151 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 93,830 | 93,847 |
| nssv16716898 | Remapped | Perfect | NC_000023.10:g.501 23713_50123730ins1 51 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 50,123,713 | 50,123,730 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16716898 | 0.68 |