nsv3418467
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,113
- Description:Absence of a L1 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: 283 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418467 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nsv3418467 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14792217 | line1 deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14793367 | line1 deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14793807 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14794135 | line1 deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14795559 | line1 deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14799249 | line1 deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14803292 | line1 deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14803878 | line1 deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14807090 | line1 deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14807214 | line1 deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14811157 | line1 deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14811607 | line1 deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14811987 | line1 deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14792217 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14793367 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14793807 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14794135 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14795559 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14799249 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14803292 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14803878 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14807090 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14807214 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14811157 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14811607 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14811987 | Submitted genomic | NC_000008.11:g.128 452908_128459020de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,452,908 | 128,459,020 | ||
| nssv14792217 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14793367 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14793807 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14794135 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14795559 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14799249 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14803292 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14803878 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14807090 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14807214 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14811157 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14811607 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |
| nssv14811987 | Remapped | Perfect | NC_000008.10:g.129 465154_129471266de lNC_000008.10:g.12 9465154_129471266d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,465,154 | 129,471,266 |