nsv5686429
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a Alu mobile element relative to the reference
- Publication(s):Chuang 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: 198 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5686429 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,873,504 | 140,873,504 | ||
| nsv5686429 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,253,089 | 140,253,089 |
| nsv5686429 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 108,680 | 108,680 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17177514 | alu insertion | Sequencing | Other |
| nssv17220752 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17177514 | Submitted genomic | NC_000005.10:g.140 873504_140873505in s260 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,873,504 | 140,873,504 | ||
| nssv17220752 | Submitted genomic | NC_000005.10:g.140 873504_140873505in s254 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,873,504 | 140,873,504 | ||
| nssv17177514 | Remapped | Perfect | NW_004775428.1:g.1 08680_108681ins260 | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 108,680 | 108,680 |
| nssv17220752 | Remapped | Perfect | NW_004775428.1:g.1 08680_108681ins254 | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 108,680 | 108,680 |
| nssv17177514 | Remapped | Perfect | NC_000005.9:g.1402 53089_140253090ins 260 | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,253,089 | 140,253,089 |
| nssv17220752 | Remapped | Perfect | NC_000005.9:g.1402 53089_140253090ins 254 | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,253,089 | 140,253,089 |