nsv5134867
- 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: 145 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5134867 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 9,839,387 | 9,839,404 | ||
| nsv5134867 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 9,991,983 | 9,992,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16685528 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16685528 | Submitted genomic | NC_000012.12:g.983 9387_9839404ins166 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 9,839,387 | 9,839,404 | ||
| nssv16685528 | Remapped | Perfect | NC_000012.11:g.999 1983_9992000ins166 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 9,991,983 | 9,992,000 |
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) |
|---|---|
| nssv16685528 | 0.36 |