nsv5652594
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert 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: 99 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5652594 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 77,098,582 | 77,098,582 | ||
| nsv5652594 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 76,809,628 | 76,809,628 |
| nsv5652594 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871081.1 | Chr11|NW_0 03871081.1 | 100,218 | 100,218 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17076194 | insertion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17076194 | Submitted genomic | NC_000011.10:g.770 98582_77098583ins5 1 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 77,098,582 | 77,098,582 | ||
| nssv17076194 | Remapped | Perfect | NW_003871081.1:g.1 00218_100219ins51 | GRCh37.p13 | First Pass | NW_003871081.1 | Chr11|NW_0 03871081.1 | 100,218 | 100,218 |
| nssv17076194 | Remapped | Perfect | NC_000011.9:g.7680 9628_76809629ins51 | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 76,809,628 | 76,809,628 |