nsv3393629
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,611
- 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: 162 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3393629 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nsv3393629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812128 | sva deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14812287 | sva deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14812468 | sva deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14812669 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14812875 | sva deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14813082 | sva deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14813288 | sva deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14813484 | sva deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14813723 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14813926 | sva deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14814104 | sva deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14814284 | sva deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14814540 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814784 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812128 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14812287 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14812468 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14812669 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14812875 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14813082 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14813288 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14813484 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14813723 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14813926 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14814104 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14814284 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14814540 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14814784 | Submitted genomic | NC_000006.12:g.297 17694_29720304del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 29,717,694 | 29,720,304 | ||
| nssv14812128 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14812287 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14812468 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14812669 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14812875 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14813082 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14813288 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14813484 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14813723 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14813926 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14814104 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14814284 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14814540 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |
| nssv14814784 | Remapped | Perfect | NC_000006.11:g.296 85471_29688081delN C_000006.11:g.2968 5471_29688081del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,471 | 29,688,081 |