nsv6134559
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,176
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: 210 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6134559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 175,493,244 | 175,493,256 | 175,539,404 | 175,539,419 |
| nsv6134559 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 166,756 | 166,768 | 197,752 | - |
| nsv6134559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 175,211,032 | 175,211,044 | 175,257,192 | 175,257,207 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681582 | inversion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17681582 | Remapped | Pass | NW_019805489.1:g.( 166756_166768)_(19 7752_?)inv | GRCh38.p12 | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 166,756 | 166,768 | 197,752 | - |
| nssv17681582 | Remapped | Perfect | NC_000003.12:g.(17 5493244_175493256) _(175539404_175539 419)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 175,493,244 | 175,493,256 | 175,539,404 | 175,539,419 |
| nssv17681582 | Submitted genomic | NC_000003.11:g.(17 5211032_175211044) _(175257192_175257 207)inv | GRCh37 (hg19) | NC_000003.11 | Chr3 | 175,211,032 | 175,211,044 | 175,257,192 | 175,257,207 |