nsv5729994
- 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 L1 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: 155 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5729994 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 13,190,801 | 13,190,801 | ||
| nsv5729994 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 13,191,033 | 13,191,033 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17236190 | line1 insertion | Sequencing | Other |
| nssv17253091 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17236190 | Submitted genomic | NC_000006.12:g.131 90801_13190802ins6 017 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 13,190,801 | 13,190,801 | ||
| nssv17253091 | Submitted genomic | NC_000006.12:g.131 90801_13190802ins6 016 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 13,190,801 | 13,190,801 | ||
| nssv17236190 | Remapped | Perfect | NC_000006.11:g.131 91033_13191034ins6 017 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 13,191,033 | 13,191,033 |
| nssv17253091 | Remapped | Perfect | NC_000006.11:g.131 91033_13191034ins6 016 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 13,191,033 | 13,191,033 |