nsv5714855
- 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 SVA 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: 130 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5714855 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,087,501 | 206,087,501 | ||
| nsv5714855 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,253,831 | 206,253,831 |
| nsv5714855 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 78,355 | 78,355 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17240909 | sva insertion | Sequencing | Other |
| nssv17244069 | sva insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17240909 | Submitted genomic | NC_000001.11:g.206 087501_206087502in s1240 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,087,501 | 206,087,501 | ||
| nssv17244069 | Submitted genomic | NC_000001.11:g.206 087501_206087502in s1314 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,087,501 | 206,087,501 | ||
| nssv17240909 | Remapped | Perfect | NW_003871057.1:g.7 8355_78356ins1240 | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 78,355 | 78,355 |
| nssv17244069 | Remapped | Perfect | NW_003871057.1:g.7 8355_78356ins1314 | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 78,355 | 78,355 |
| nssv17240909 | Remapped | Perfect | NC_000001.10:g.206 253831_206253832in s1240 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,253,831 | 206,253,831 |
| nssv17244069 | Remapped | Perfect | NC_000001.10:g.206 253831_206253832in s1314 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,253,831 | 206,253,831 |