nsv3209557
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:complex substitution
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,051
- Publication(s):Chaisson 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: 984 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 984 SVs from 82 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3209557 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 1,580,351 | 1,613,401 | ||
nsv3209557 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 1,560,997 | 1,594,047 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14408468 | complex substitution | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
nssv14463702 | complex substitution | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|
nssv14408468 | Submitted genomic | GRCh38 (hg38) | NC_000020.11 | Chr20 | 1,580,351 | 1,613,401 | ||
nssv14463702 | Submitted genomic | GRCh38 (hg38) | NC_000020.11 | Chr20 | 1,580,351 | 1,613,401 | ||
nssv14408468 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,560,997 | 1,594,047 |
nssv14463702 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,560,997 | 1,594,047 |