nsv5720319
- 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 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: 127 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5720319 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,349,639 | 121,349,639 | ||
| nsv5720319 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 121,787,442 | 121,787,442 |
| nsv5720319 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504303.2 | Chr12|NW_0 04504303.2 | 25,642 | 25,642 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17237428 | sva insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17237428 | Submitted genomic | NC_000012.12:g.121 349639_121349640in s1240 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,349,639 | 121,349,639 | ||
| nssv17237428 | Remapped | Perfect | NW_004504303.2:g.2 5642_25643ins1240 | GRCh37.p13 | First Pass | NW_004504303.2 | Chr12|NW_0 04504303.2 | 25,642 | 25,642 |
| nssv17237428 | Remapped | Perfect | NC_000012.11:g.121 787442_121787443in s1240 | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 121,787,442 | 121,787,442 |