nsv3417491
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68,200
- 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: 349 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3417491 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187498.1 | Unplaced|N T_187498.1 | 78,201 (-100, +100) | 146,400 (-100, +100) | ||
| nsv3417491 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 142,628,736 (-100, +100) | 142,696,963 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14802746 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14803727 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14804726 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14802746 | Submitted genomic | NT_187498.1:g.(781 01_78301)_(146300_ 146500)dup | GRCh38 (hg38) | NT_187498.1 | Unplaced|N T_187498.1 | 78,201 (-100, +100) | 146,400 (-100, +100) | ||
| nssv14803727 | Submitted genomic | NT_187498.1:g.(781 01_78301)_(146300_ 146500)dup | GRCh38 (hg38) | NT_187498.1 | Unplaced|N T_187498.1 | 78,201 (-100, +100) | 146,400 (-100, +100) | ||
| nssv14804726 | Submitted genomic | NT_187498.1:g.(781 01_78301)_(146300_ 146500)dup | GRCh38 (hg38) | NT_187498.1 | Unplaced|N T_187498.1 | 78,201 (-100, +100) | 146,400 (-100, +100) | ||
| nssv14802746 | Remapped | Good | NC_000001.10:g.(14 2628636_142628836) _(142696863_142697 063)dupNC_000001.1 0:g.(142628636_142 628836)_(142696863 _142697063)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 142,628,736 (-100, +100) | 142,696,963 (-100, +100) |
| nssv14803727 | Remapped | Good | NC_000001.10:g.(14 2628636_142628836) _(142696863_142697 063)dupNC_000001.1 0:g.(142628636_142 628836)_(142696863 _142697063)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 142,628,736 (-100, +100) | 142,696,963 (-100, +100) |
| nssv14804726 | Remapped | Good | NC_000001.10:g.(14 2628636_142628836) _(142696863_142697 063)dupNC_000001.1 0:g.(142628636_142 628836)_(142696863 _142697063)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 142,628,736 (-100, +100) | 142,696,963 (-100, +100) |