nsv3168340
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,239,135
- Publication(s):Cleal et al. 2019
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: 140941 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 140922 SVs from 141 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168340 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 66,058,288 (-232, +232) | 123,297,422 (-232, +232) |
| nsv3168340 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 66,452,068 (-232, +232) | 123,781,969 (-232, +232) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239991 | inversion | DB47 | Sequencing | Paired-end mapping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239991 | Remapped | Good | NC_000012.12:g.(66 058056_66058520)_( 123297190_12329765 4)inv159 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 66,058,288 (-232, +232) | 123,297,422 (-232, +232) |
| nssv14239991 | Submitted genomic | NC_000012.11:g.(66 451836_66452300)_( 123781737_12378220 1)inv159 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 66,452,068 (-232, +232) | 123,781,969 (-232, +232) |