nsv3388294
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:939
- Description:Absence of a Alu 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: 154 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3388294 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nsv3388294 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14613627 | alu deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14620440 | alu deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14622239 | alu deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14623048 | alu deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14624378 | alu deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14624736 | alu deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14625390 | alu deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14625560 | alu deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14626718 | alu deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14627055 | alu deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14613627 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14620440 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14622239 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14623048 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14624378 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14624736 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14625390 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14625560 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14626718 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14627055 | Submitted genomic | NC_000003.12:g.489 20338_48921276del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,920,338 | 48,921,276 | ||
| nssv14613627 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14620440 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14622239 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14623048 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14624378 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14624736 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14625390 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14625560 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14626718 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |
| nssv14627055 | Remapped | Perfect | NC_000003.11:g.489 57771_48958709delN C_000003.11:g.4895 7771_48958709del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,957,771 | 48,958,709 |