nsv5730132
- 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: 444 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5730132 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,588,241 | 148,588,241 | ||
| nsv5730132 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,669,762 | 147,669,762 |
| nsv5730132 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,112,635 | 4,112,635 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17237130 | line1 insertion | Sequencing | Other |
| nssv17252125 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17237130 | Submitted genomic | NC_000023.11:g.148 588241_148588242in s526 | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,588,241 | 148,588,241 | ||
| nssv17252125 | Submitted genomic | NC_000023.11:g.148 588241_148588242in s526 | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,588,241 | 148,588,241 | ||
| nssv17237130 | Remapped | Perfect | NW_004070890.2:g.4 112635_4112636ins5 26 | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,112,635 | 4,112,635 |
| nssv17252125 | Remapped | Perfect | NW_004070890.2:g.4 112635_4112636ins5 26 | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,112,635 | 4,112,635 |
| nssv17237130 | Remapped | Perfect | NC_000023.10:g.147 669762_147669763in s526 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,669,762 | 147,669,762 |
| nssv17252125 | Remapped | Perfect | NC_000023.10:g.147 669762_147669763in s526 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,669,762 | 147,669,762 |