nsv5643412
- 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: 115 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5643412 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 116,633,652 | 116,633,652 | ||
| nsv5643412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 118,393,163 | 118,393,163 |
| nsv5643412 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871069.1 | Chr10|NW_0 03871069.1 | 44,648 | 44,648 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17067552 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17067552 | Submitted genomic | NC_000010.11:g.116 633652_116633653in s131 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 116,633,652 | 116,633,652 | ||
| nssv17067552 | Remapped | Perfect | NW_003871069.1:g.4 4648_44649ins131 | GRCh37.p13 | First Pass | NW_003871069.1 | Chr10|NW_0 03871069.1 | 44,648 | 44,648 |
| nssv17067552 | Remapped | Perfect | NC_000010.10:g.118 393163_118393164in s131 | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 118,393,163 | 118,393,163 |