nsv5642113
- 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: 191 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5642113 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 73,166,838 | 73,166,838 | ||
| nsv5642113 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 74,855,742 | 74,855,742 |
| nsv5642113 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 696,074 | 696,074 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17153390 | insertion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17153390 | Submitted genomic | NC_000007.14:g.731 66838_73166839ins5 5 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 73,166,838 | 73,166,838 | ||
| nssv17153390 | Remapped | Perfect | NW_003871064.1:g.6 96074_696075ins55 | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 696,074 | 696,074 |
| nssv17153390 | Remapped | Perfect | NC_000007.13:g.748 55742_74855743ins5 5 | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 74,855,742 | 74,855,742 |