nsv3416376
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- 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: 433 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3416376 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nsv3416376 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nsv3416376 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14796443 | sva insertion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14797755 | sva insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14798016 | sva insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14798149 | sva insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14799205 | sva insertion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14799796 | sva insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14802601 | sva insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14803403 | sva insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14803985 | sva insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14805244 | sva insertion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14805970 | sva insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14809043 | sva insertion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14809435 | sva insertion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14809756 | sva insertion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14796443 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14797755 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14798016 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14798149 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14799205 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14799796 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14802601 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14803403 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14803985 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14805244 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14805970 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14809043 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14809435 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14809756 | Submitted genomic | NC_000023.11:g.537 72529_53772530ins1 28 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,772,529 | 53,772,529 | ||
| nssv14796443 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14797755 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14798016 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14798149 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14799205 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14799796 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14802601 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14803403 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14803985 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14805244 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14805970 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14809043 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14809435 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14809756 | Remapped | Perfect | NW_004070877.1:g.3 485644_3485645ins1 28NW_004070877.1:g .3485644_3485645in s128 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,485,644 | 3,485,644 |
| nssv14796443 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14797755 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14798016 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14798149 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14799205 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14799796 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14802601 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14803403 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14803985 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14805244 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14805970 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14809043 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14809435 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |
| nssv14809756 | Remapped | Perfect | NC_000023.10:g.537 99027_53799028ins1 28NC_000023.10:g.5 3799027_53799028in s128 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,799,027 | 53,799,027 |