nsv3418761
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:64
- 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: 424 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 422 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418761 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 115,510,219 | 115,510,282 | ||
| nsv3418761 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 114,744,532 | 114,744,595 |
| nsv3418761 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 1,179,021 | 1,179,084 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14792155 | deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14793210 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14800848 | deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14808194 | deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14808935 | deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14792155 | Submitted genomic | NC_000023.11:g.115 510219_115510282de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 115,510,219 | 115,510,282 | ||
| nssv14793210 | Submitted genomic | NC_000023.11:g.115 510219_115510282de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 115,510,219 | 115,510,282 | ||
| nssv14800848 | Submitted genomic | NC_000023.11:g.115 510219_115510282de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 115,510,219 | 115,510,282 | ||
| nssv14808194 | Submitted genomic | NC_000023.11:g.115 510219_115510282de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 115,510,219 | 115,510,282 | ||
| nssv14808935 | Submitted genomic | NC_000023.11:g.115 510219_115510282de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 115,510,219 | 115,510,282 | ||
| nssv14792155 | Remapped | Perfect | NW_004070891.1:g.1 179021_1179084delN W_004070891.1:g.11 79021_1179084del | GRCh37.p13 | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 1,179,021 | 1,179,084 |
| nssv14793210 | Remapped | Perfect | NW_004070891.1:g.1 179021_1179084delN W_004070891.1:g.11 79021_1179084del | GRCh37.p13 | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 1,179,021 | 1,179,084 |
| nssv14800848 | Remapped | Perfect | NW_004070891.1:g.1 179021_1179084delN W_004070891.1:g.11 79021_1179084del | GRCh37.p13 | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 1,179,021 | 1,179,084 |
| nssv14808194 | Remapped | Perfect | NW_004070891.1:g.1 179021_1179084delN W_004070891.1:g.11 79021_1179084del | GRCh37.p13 | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 1,179,021 | 1,179,084 |
| nssv14808935 | Remapped | Perfect | NW_004070891.1:g.1 179021_1179084delN W_004070891.1:g.11 79021_1179084del | GRCh37.p13 | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 1,179,021 | 1,179,084 |
| nssv14792155 | Remapped | Perfect | NC_000023.10:g.114 744532_114744595de lNC_000023.10:g.11 4744532_114744595d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 114,744,532 | 114,744,595 |
| nssv14793210 | Remapped | Perfect | NC_000023.10:g.114 744532_114744595de lNC_000023.10:g.11 4744532_114744595d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 114,744,532 | 114,744,595 |
| nssv14800848 | Remapped | Perfect | NC_000023.10:g.114 744532_114744595de lNC_000023.10:g.11 4744532_114744595d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 114,744,532 | 114,744,595 |
| nssv14808194 | Remapped | Perfect | NC_000023.10:g.114 744532_114744595de lNC_000023.10:g.11 4744532_114744595d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 114,744,532 | 114,744,595 |
| nssv14808935 | Remapped | Perfect | NC_000023.10:g.114 744532_114744595de lNC_000023.10:g.11 4744532_114744595d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 114,744,532 | 114,744,595 |