nsv5615501
- 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: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5615501 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 8,067,973 | 8,067,973 | ||
| nsv5615501 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 8,208,103 | 8,208,103 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17114719 | insertion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
| nssv17114720 | insertion | SAMN00004622 | Sequencing | Sequence alignment | 1,208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17114719 | Submitted genomic | NC_000002.12:g.806 7973_8067974ins133 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 8,067,973 | 8,067,973 | ||
| nssv17114720 | Submitted genomic | NC_000002.12:g.806 7973_8067974ins67 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 8,067,973 | 8,067,973 | ||
| nssv17114719 | Remapped | Perfect | NC_000002.11:g.820 8103_8208104ins133 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 8,208,103 | 8,208,103 |
| nssv17114720 | Remapped | Perfect | NC_000002.11:g.820 8103_8208104ins67 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 8,208,103 | 8,208,103 |