nsv5140054
- 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:16
- 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: 120 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5140054 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 62,784,699 | 62,784,714 | ||
| nsv5140054 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 60,862,060 | 60,862,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16713777 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16713777 | Submitted genomic | NC_000017.11:g.627 84699_62784714ins3 76 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 62,784,699 | 62,784,714 | ||
| nssv16713777 | Remapped | Perfect | NC_000017.10:g.608 62060_60862075ins3 76 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 60,862,060 | 60,862,075 |
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) |
|---|---|
| nssv16713777 | 0.429 |