nsv5647947
- 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: 132 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5647947 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 40,818,851 | 40,818,851 | ||
| nsv5647947 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 38,975,103 | 38,975,103 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17096173 | insertion | SAMN00801888 | Sequencing | Sequence alignment | 2,004 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17096173 | Submitted genomic | NC_000017.11:g.408 18851_40818852ins6 1 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,818,851 | 40,818,851 | ||
| nssv17096173 | Remapped | Perfect | NC_000017.10:g.389 75103_38975104ins6 1 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 38,975,103 | 38,975,103 |