nsv5666565
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,103,898
- 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: 6206 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 3033 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5666565 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 73,113,990 | 75,217,887 | ||
| nsv5666565 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 643,226 | 2,747,123 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17141528 | inversion | SAMN00006580 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17141528 | Submitted genomic | NC_000007.14:g.731 13990_75217887inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 73,113,990 | 75,217,887 | ||
| nssv17141528 | Remapped | Perfect | NW_003871064.1:g.6 43226_2747123inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 643,226 | 2,747,123 |