nsv5730308
- Organism: Homo sapiens
- Study:nstd211 (Chuang 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
- 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: 439 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5730308 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,725,905 | 148,725,905 | ||
| nsv5730308 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,807,429 | 147,807,429 |
| nsv5730308 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,250,302 | 4,250,302 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17252201 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17252201 | Submitted genomic | NC_000023.11:g.148 725905_148725906in s? | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,725,905 | 148,725,905 | ||
| nssv17252201 | Remapped | Perfect | NW_004070890.2:g.4 250302_4250303ins? | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,250,302 | 4,250,302 |
| nssv17252201 | Remapped | Perfect | NC_000023.10:g.147 807429_147807430in s? | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,807,429 | 147,807,429 |