nsv5647385
- 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: 251 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5647385 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 81,432,794 | 81,432,794 | ||
| nsv5647385 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871087.1 | Chr17|NW_0 03871087.1 | 87,432 | 87,432 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17090531 | insertion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17090531 | Submitted genomic | NC_000017.11:g.814 32794_81432795ins9 6 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 81,432,794 | 81,432,794 | ||
| nssv17090531 | Remapped | Perfect | NW_003871087.1:g.8 7432_87433ins96 | GRCh37.p13 | First Pass | NW_003871087.1 | Chr17|NW_0 03871087.1 | 87,432 | 87,432 |