nsv5616282
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- 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: 177 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5616282 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 60,468,025 | 60,468,025 | ||
| nsv5616282 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 60,695,160 | 60,695,160 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17114599 | insertion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
| nssv17114600 | insertion | NA24385 | Sequencing | Sequence alignment | 2,573 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17114599 | Submitted genomic | NC_000002.12:g.604 68025_60468026ins5 53 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 60,468,025 | 60,468,025 | ||
| nssv17114600 | Submitted genomic | NC_000002.12:g.604 68025_60468026ins9 2 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 60,468,025 | 60,468,025 | ||
| nssv17114599 | Remapped | Perfect | NC_000002.11:g.606 95160_60695161ins5 53 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 60,695,160 | 60,695,160 |
| nssv17114600 | Remapped | Perfect | NC_000002.11:g.606 95160_60695161ins9 2 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 60,695,160 | 60,695,160 |