nsv5667109
- 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:47,172
- 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: 465 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5667109 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 4,961,362 | 5,008,533 | ||
| nsv5667109 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 5,012,527 | 5,050,725 |
| nsv5667109 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871071.1 | Chr10|NW_0 03871071.1 | 1 | 38,199 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17070635 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17070635 | Submitted genomic | NC_000010.11:g.496 1362_5008533inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 4,961,362 | 5,008,533 | ||
| nssv17070635 | Remapped | Pass | NW_003871071.1:g.1 _38199inv | GRCh37.p13 | First Pass | NW_003871071.1 | Chr10|NW_0 03871071.1 | 1 | 38,199 |
| nssv17070635 | Remapped | Pass | NC_000010.10:g.501 2527_5050725inv | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 5,012,527 | 5,050,725 |