nsv3199579
- 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:5,326
- 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: 1184 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1173 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3199579 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 33,487,892 | 33,493,217 | ||
| nsv3199579 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000016.9 | Chr16 | 33,290,351 | 33,293,652 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14461380 | complex substitution | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
| nssv14467591 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv14461380 | Submitted genomic | GRCh38 (hg38) | NC_000016.10 | Chr16 | 33,487,892 | 33,493,217 | ||
| nssv14467591 | Submitted genomic | GRCh38 (hg38) | NC_000016.10 | Chr16 | 33,487,892 | 33,493,217 | ||
| nssv14461380 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 33,290,351 | 33,293,652 |
| nssv14467591 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 33,290,351 | 33,293,652 |