nsv1154247
- Organism: Homo sapiens
- Study:nstd105 (Onozawa et al. 2015)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43
- Description:Insertion of chr12:57046967-57046743
- Publication(s):Onozawa et al. 2015
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: 106 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1154247 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 42,008,614 | 42,008,656 |
| nsv1154247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,404,618 | 42,404,660 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4004068 | insertion | NA19026 | Sequencing | Sequence alignment | nssv4004172, nssv4004189 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv4004068 | Remapped | Perfect | NC_000022.11:g.(42 008614_?)_(?_42008 656)ins224 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 42,008,614 | 42,008,656 |
| nssv4004068 | Submitted genomic | NC_000022.10:g.(42 404618_?)_(?_42404 660)ins224 | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,404,618 | 42,404,660 |