nsv3418244
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,706
- Description:Absence of a SVA insertion that is present in the reference
- Publication(s):Audano 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: 157 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418244 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 120,494,748 | 120,497,453 | ||
| nsv3418244 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 123,257,026 | 123,259,731 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14813339 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813527 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14814587 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814843 | sva deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14813339 | Submitted genomic | NC_000009.12:g.120 494748_120497453de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 120,494,748 | 120,497,453 | ||
| nssv14813527 | Submitted genomic | NC_000009.12:g.120 494748_120497453de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 120,494,748 | 120,497,453 | ||
| nssv14814587 | Submitted genomic | NC_000009.12:g.120 494748_120497453de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 120,494,748 | 120,497,453 | ||
| nssv14814843 | Submitted genomic | NC_000009.12:g.120 494748_120497453de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 120,494,748 | 120,497,453 | ||
| nssv14813339 | Remapped | Perfect | NC_000009.11:g.123 257026_123259731de lNC_000009.11:g.12 3257026_123259731d el | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 123,257,026 | 123,259,731 |
| nssv14813527 | Remapped | Perfect | NC_000009.11:g.123 257026_123259731de lNC_000009.11:g.12 3257026_123259731d el | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 123,257,026 | 123,259,731 |
| nssv14814587 | Remapped | Perfect | NC_000009.11:g.123 257026_123259731de lNC_000009.11:g.12 3257026_123259731d el | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 123,257,026 | 123,259,731 |
| nssv14814843 | Remapped | Perfect | NC_000009.11:g.123 257026_123259731de lNC_000009.11:g.12 3257026_123259731d el | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 123,257,026 | 123,259,731 |