nsv3181045
- 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:61,063
- 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: 876 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 542 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3181045 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 146,067,182 | 146,128,244 | ||
| nsv3181045 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,309,938 | 145,367,820 |
| nsv3181045 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,882,595 | 2,943,657 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14452827 | complex substitution | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
| nssv14454728 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv14452827 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,067,182 | 146,128,244 | ||
| nssv14454728 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,067,182 | 146,128,244 | ||
| nssv14452827 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,882,595 | 2,943,657 |
| nssv14454728 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,882,595 | 2,943,657 |
| nssv14452827 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,309,938 | 145,367,820 |
| nssv14454728 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,309,938 | 145,367,820 |