nsv3406987
- 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:811
- 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: 244 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3406987 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nsv3406987 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14713515 | alu deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14715910 | alu deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14716565 | alu deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14717539 | alu deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14718881 | alu deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14721695 | alu deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14722166 | alu deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14724247 | alu deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14725605 | alu deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14725956 | alu deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14713515 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14715910 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14716565 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14717539 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14718881 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14721695 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14722166 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14724247 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14725605 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14725956 | Submitted genomic | NC_000008.11:g.144 831630_144832440de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,831,630 | 144,832,440 | ||
| nssv14713515 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14715910 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14716565 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14717539 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14718881 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14721695 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14722166 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14724247 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14725605 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |
| nssv14725956 | Remapped | Perfect | NC_000008.10:g.146 057015_146057825de lNC_000008.10:g.14 6057015_146057825d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 146,057,015 | 146,057,825 |