nsv5665280
- 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:3,025,249
- 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: 6601 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 3070 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5665280 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 146,327,105 (-3197, +3197) | 149,352,353 (-3702, +3702) | ||
| nsv5665280 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,142,518 (-3197, +3197) | 6,167,766 (-3702, +3702) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17061122 | inversion | Optical mapping, Sequencing | Optical mapping, Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17061122 | Submitted genomic | NC_000001.11:g.(14 6323908_146330302) _(149348651_149356 055)inv | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,327,105 (-3197, +3197) | 149,352,353 (-3702, +3702) | ||
| nssv17061122 | Remapped | Perfect | NW_003871055.3:g.( 3139321_3145715)_( 6164064_6171468)in v | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,142,518 (-3197, +3197) | 6,167,766 (-3702, +3702) |