nsv5687122
- 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: 97 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5687122 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 26,605,344 | 26,605,344 | ||
| nsv5687122 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 26,605,572 | 26,605,572 |
| nsv5687122 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 19,730 | 19,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17177281 | alu insertion | Sequencing | Other |
| nssv17222045 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17177281 | Submitted genomic | NC_000006.12:g.266 05344_26605345ins2 81 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 26,605,344 | 26,605,344 | ||
| nssv17222045 | Submitted genomic | NC_000006.12:g.266 05344_26605345ins2 81 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 26,605,344 | 26,605,344 | ||
| nssv17177281 | Remapped | Perfect | NW_004070866.1:g.1 9730_19731ins281 | GRCh37.p13 | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 19,730 | 19,730 |
| nssv17222045 | Remapped | Perfect | NW_004070866.1:g.1 9730_19731ins281 | GRCh37.p13 | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 19,730 | 19,730 |
| nssv17177281 | Remapped | Perfect | NC_000006.11:g.266 05572_26605573ins2 81 | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 26,605,572 | 26,605,572 |
| nssv17222045 | Remapped | Perfect | NC_000006.11:g.266 05572_26605573ins2 81 | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 26,605,572 | 26,605,572 |