nsv3169213
- 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:12,637,194
- 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: 30295 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 30320 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3169213 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 20,229,935 (-504, +504) | 32,867,128 (-504, +504) |
| nsv3169213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 20,429,696 (-504, +504) | 33,092,195 (-504, +504) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239785 | inversion | DB39 | Sequencing | Paired-end mapping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239785 | Remapped | Good | NC_000002.12:g.(20 229431_20230439)_( 32866624_32867632) inv143 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 20,229,935 (-504, +504) | 32,867,128 (-504, +504) |
| nssv14239785 | Submitted genomic | NC_000002.11:g.(20 429192_20430200)_( 33091691_33092699) inv143 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 20,429,696 (-504, +504) | 33,092,195 (-504, +504) |