nsv5134185
- 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:11
- 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: 136 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5134185 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 5,450,552 | 5,450,562 | ||
| nsv5134185 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 5,492,515 | 5,492,525 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16675851 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16675851 | Submitted genomic | NC_000010.11:g.545 0552_5450562ins199 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 5,450,552 | 5,450,562 | ||
| nssv16675851 | Remapped | Perfect | NC_000010.10:g.549 2515_5492525ins199 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 5,492,515 | 5,492,525 |
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) |
|---|---|
| nssv16675851 | 0.296 |