nsv3414089
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 136 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3414089 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 65,662,599 | 65,662,599 | ||
| nsv3414089 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 66,574,834 | 66,574,834 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14752609 | sva insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14753617 | sva insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14760240 | sva insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14762413 | sva insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14752609 | Submitted genomic | NC_000008.11:g.656 62599_65662600ins1 16 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 65,662,599 | 65,662,599 | ||
| nssv14753617 | Submitted genomic | NC_000008.11:g.656 62599_65662600ins1 16 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 65,662,599 | 65,662,599 | ||
| nssv14760240 | Submitted genomic | NC_000008.11:g.656 62599_65662600ins1 16 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 65,662,599 | 65,662,599 | ||
| nssv14762413 | Submitted genomic | NC_000008.11:g.656 62599_65662600ins1 16 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 65,662,599 | 65,662,599 | ||
| nssv14752609 | Remapped | Perfect | NC_000008.10:g.665 74834_66574835ins1 16NC_000008.10:g.6 6574834_66574835in s116 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 66,574,834 | 66,574,834 |
| nssv14753617 | Remapped | Perfect | NC_000008.10:g.665 74834_66574835ins1 16NC_000008.10:g.6 6574834_66574835in s116 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 66,574,834 | 66,574,834 |
| nssv14760240 | Remapped | Perfect | NC_000008.10:g.665 74834_66574835ins1 16NC_000008.10:g.6 6574834_66574835in s116 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 66,574,834 | 66,574,834 |
| nssv14762413 | Remapped | Perfect | NC_000008.10:g.665 74834_66574835ins1 16NC_000008.10:g.6 6574834_66574835in s116 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 66,574,834 | 66,574,834 |