nsv6241046
- Organism: Homo sapiens
- Study:nstd215 (Prakrithi et al. 2022)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Prakrithi et al. 2022
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: 86 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6241046 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 54,461,690 | 54,461,690 | ||
| nsv6241046 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 54,855,474 | 54,855,474 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17844281 | alu insertion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17844281 | Submitted genomic | NC_000012.12:g.544 61690_54461691ins2 81 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 54,461,690 | 54,461,690 | ||
| nssv17844281 | Remapped | Perfect | NC_000012.11:g.548 55474_54855475ins2 81 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 54,855,474 | 54,855,474 |