nsv3401978
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:136,800
- 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: 473 SVs from 52 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3401978 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187498.1 | Unplaced|N T_187498.1 | 8,201 (-100, +100) | 145,000 (-100, +100) | ||
nsv3401978 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 142,590,606 (-100, +100) | 142,695,562 (-100, +100) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14794009 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14798290 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14794009 | Submitted genomic | NT_187498.1:g.(810 1_8301)_(144900_14 5100)dup | GRCh38 (hg38) | NT_187498.1 | Unplaced|N T_187498.1 | 8,201 (-100, +100) | 145,000 (-100, +100) | ||
nssv14798290 | Submitted genomic | NT_187498.1:g.(810 1_8301)_(144900_14 5100)dup | GRCh38 (hg38) | NT_187498.1 | Unplaced|N T_187498.1 | 8,201 (-100, +100) | 145,000 (-100, +100) | ||
nssv14794009 | Remapped | Pass | NC_000001.10:g.(14 2590506_142590706) _(142695462_142695 662)dupNC_000001.1 0:g.(142590506_142 590706)_(142695462 _142695662)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 142,590,606 (-100, +100) | 142,695,562 (-100, +100) |
nssv14798290 | Remapped | Pass | NC_000001.10:g.(14 2590506_142590706) _(142695462_142695 662)dupNC_000001.1 0:g.(142590506_142 590706)_(142695462 _142695662)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 142,590,606 (-100, +100) | 142,695,562 (-100, +100) |