nsv3418445
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,578
- 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: 176 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418445 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nsv3418445 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812175 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812524 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812724 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14812925 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14813134 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14813352 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813536 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14813792 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14813983 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14814347 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14814600 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814853 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812175 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14812524 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14812724 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14812925 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14813134 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14813352 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14813536 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14813792 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14813983 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14814347 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14814600 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14814853 | Submitted genomic | NC_000009.12:g.817 09435_81712012del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 81,709,435 | 81,712,012 | ||
| nssv14812175 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14812524 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14812724 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14812925 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14813134 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14813352 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14813536 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14813792 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14813983 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14814347 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14814600 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |
| nssv14814853 | Remapped | Perfect | NC_000009.11:g.843 24350_84326927delN C_000009.11:g.8432 4350_84326927del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 84,324,350 | 84,326,927 |