nsv3338589
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,609
- 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: 144 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3338589 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nsv3338589 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812070 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812218 | sva deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14812391 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812580 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14812986 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14813194 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813408 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14813596 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14813851 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14814029 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14814195 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14814410 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814666 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812070 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14812218 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14812391 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14812580 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14812986 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14813194 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14813408 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14813596 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14813851 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14814029 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14814195 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14814410 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14814666 | Submitted genomic | NC_000012.12:g.959 46569_95949177del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,569 | 95,949,177 | ||
| nssv14812070 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14812218 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14812391 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14812580 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14812986 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14813194 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14813408 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14813596 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14813851 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14814029 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14814195 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14814410 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |
| nssv14814666 | Remapped | Perfect | NC_000012.11:g.963 40347_96342955delN C_000012.11:g.9634 0347_96342955del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,347 | 96,342,955 |