nsv5718754
- 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: 129 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5718754 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 128,293,012 | 128,293,012 | ||
| nsv5718754 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 128,777,557 | 128,777,557 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17244326 | line1 insertion | Sequencing | Other |
| nssv17245096 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17244326 | Submitted genomic | NC_000012.12:g.128 293012_128293013in s744 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 128,293,012 | 128,293,012 | ||
| nssv17245096 | Submitted genomic | NC_000012.12:g.128 293012_128293013in s744 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 128,293,012 | 128,293,012 | ||
| nssv17244326 | Remapped | Perfect | NC_000012.11:g.128 777557_128777558in s744 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 128,777,557 | 128,777,557 |
| nssv17245096 | Remapped | Perfect | NC_000012.11:g.128 777557_128777558in s744 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 128,777,557 | 128,777,557 |