nsv3363382
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- 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: 146 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3363382 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 192,131,238 | 192,131,238 | ||
nsv3363382 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 192,995,964 | 192,995,964 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14639219 | herv insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14641600 | herv insertion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
nssv14642735 | herv insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14645025 | herv insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
nssv14647750 | herv insertion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14639219 | Submitted genomic | NC_000002.12:g.192 131238_192131239in s61 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 192,131,238 | 192,131,238 | ||
nssv14641600 | Submitted genomic | NC_000002.12:g.192 131238_192131239in s61 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 192,131,238 | 192,131,238 | ||
nssv14642735 | Submitted genomic | NC_000002.12:g.192 131238_192131239in s61 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 192,131,238 | 192,131,238 | ||
nssv14645025 | Submitted genomic | NC_000002.12:g.192 131238_192131239in s61 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 192,131,238 | 192,131,238 | ||
nssv14647750 | Submitted genomic | NC_000002.12:g.192 131238_192131239in s61 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 192,131,238 | 192,131,238 | ||
nssv14639219 | Remapped | Perfect | NC_000002.11:g.192 995964_192995965in s61NC_000002.11:g. 192995964_19299596 5ins61 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 192,995,964 | 192,995,964 |
nssv14641600 | Remapped | Perfect | NC_000002.11:g.192 995964_192995965in s61NC_000002.11:g. 192995964_19299596 5ins61 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 192,995,964 | 192,995,964 |
nssv14642735 | Remapped | Perfect | NC_000002.11:g.192 995964_192995965in s61NC_000002.11:g. 192995964_19299596 5ins61 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 192,995,964 | 192,995,964 |
nssv14645025 | Remapped | Perfect | NC_000002.11:g.192 995964_192995965in s61NC_000002.11:g. 192995964_19299596 5ins61 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 192,995,964 | 192,995,964 |
nssv14647750 | Remapped | Perfect | NC_000002.11:g.192 995964_192995965in s61NC_000002.11:g. 192995964_19299596 5ins61 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 192,995,964 | 192,995,964 |