nsv3416266
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:86,100
- 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: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3416266 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nsv3416266 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14792432 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14792488 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14793953 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14794645 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14795766 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14796872 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14802448 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14803836 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14808835 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14809564 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14809888 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14810559 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14811088 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14811152 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14792432 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14792488 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14793953 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14794645 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14795766 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14796872 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14802448 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14803836 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14808835 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14809564 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14809888 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14810559 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14811088 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14811152 | Submitted genomic | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dup | GRCh38 (hg38) | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) | ||
| nssv14792432 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14792488 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14793953 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14794645 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14795766 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14796872 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14802448 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14803836 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14808835 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14809564 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14809888 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14810559 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14811088 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |
| nssv14811152 | Remapped | Perfect | NT_113889.1:g.(692 01_69401)_(155300_ 155500)dupNT_11388 9.1:g.(69201_69401 )_(155300_155500)d up | GRCh37.p13 | First Pass | NT_113889.1 | Unplaced|N T_113889.1 | 69,301 (-100, +100) | 155,400 (-100, +100) |