nsv5190314
- 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:1
- 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: 396 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5190314 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,250,452 | 74,250,452 | ||
| nsv5190314 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,664,782 | 73,664,782 |
| nsv5190314 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,779,688 | 1,779,688 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16657556 | sva 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16657556 | Submitted genomic | NC_000007.14:g.742 50452_74250453ins5 26 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,250,452 | 74,250,452 | ||
| nssv16657556 | Remapped | Perfect | NW_003871064.1:g.1 779688_1779689ins5 26 | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,779,688 | 1,779,688 |
| nssv16657556 | Remapped | Perfect | NC_000007.13:g.736 64782_73664783ins5 26 | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,664,782 | 73,664,782 |
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) |
|---|---|
| nssv16657556 | 0.929 |