nsv6250809
- 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: 136 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6250809 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 44,070,546 | 44,070,546 | ||
| nsv6250809 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 42,147,914 | 42,147,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17848493 | alu insertion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17848493 | Submitted genomic | NC_000017.11:g.440 70546_44070547ins2 65 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 44,070,546 | 44,070,546 | ||
| nssv17848493 | Remapped | Perfect | NC_000017.10:g.421 47914_42147915ins2 65 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 42,147,914 | 42,147,914 |