nsv5694082
- 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: 567 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 693 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5694082 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 147,641,941 | 147,641,941 | ||
| nsv5694082 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,113,740 | 147,113,740 |
| nsv5694082 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,457,354 | 4,457,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17180353 | alu insertion | Sequencing | Other |
| nssv17206252 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17180353 | Submitted genomic | NC_000001.11:g.147 641941_147641942in s280 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,641,941 | 147,641,941 | ||
| nssv17206252 | Submitted genomic | NC_000001.11:g.147 641941_147641942in s280 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,641,941 | 147,641,941 | ||
| nssv17180353 | Remapped | Perfect | NW_003871055.3:g.4 457354_4457355ins2 80 | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,457,354 | 4,457,354 |
| nssv17206252 | Remapped | Perfect | NW_003871055.3:g.4 457354_4457355ins2 80 | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,457,354 | 4,457,354 |
| nssv17180353 | Remapped | Perfect | NC_000001.10:g.147 113740_147113741in s280 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,113,740 | 147,113,740 |
| nssv17206252 | Remapped | Perfect | NC_000001.10:g.147 113740_147113741in s280 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,113,740 | 147,113,740 |