nsv3418769
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:13
- 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: 348 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418769 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nsv3418769 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nsv3418769 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14772876 | alu insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14772922 | alu insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14774016 | alu insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14774828 | alu insertion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14775570 | alu insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14778153 | alu insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14779278 | alu insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14779453 | alu insertion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14780597 | alu insertion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14781221 | alu insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14784089 | alu insertion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14784186 | alu insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14791855 | alu insertion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14772876 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14772922 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14774016 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14774828 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14775570 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14778153 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14779278 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14779453 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14780597 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14781221 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14784089 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14784186 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14791855 | Submitted genomic | NC_000008.11:g.143 988243_143988244in s732 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,988,243 | 143,988,243 | ||
| nssv14772876 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14772922 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14774016 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14774828 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14775570 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14778153 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14779278 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14779453 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14780597 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14781221 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14784089 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14784186 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14791855 | Remapped | Perfect | NW_003315923.1:g.3 26888_326889ins732 NW_003315923.1:g.3 26888_326889ins732 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 326,888 | 326,888 |
| nssv14772876 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14772922 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14774016 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14774828 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14775570 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14778153 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14779278 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14779453 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14780597 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14781221 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14784089 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14784186 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |
| nssv14791855 | Remapped | Perfect | NC_000008.10:g.145 062411_145062412in s732NC_000008.10:g .145062411_1450624 12ins732 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,062,411 | 145,062,411 |