nsv3377293
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,018
- 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: 144 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3377293 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 131,969,025 | 131,978,042 | ||
nsv3377293 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 131,687,869 | 131,696,886 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14677453 | inversion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
nssv14690162 | inversion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14677453 | Submitted genomic | NC_000003.12:g.131 969025_131978042in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,969,025 | 131,978,042 | ||
nssv14690162 | Submitted genomic | NC_000003.12:g.131 969025_131978042in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,969,025 | 131,978,042 | ||
nssv14677453 | Remapped | Perfect | NC_000003.11:g.131 687869_131696886in vNC_000003.11:g.13 1687869_131696886i nv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,869 | 131,696,886 |
nssv14690162 | Remapped | Perfect | NC_000003.11:g.131 687869_131696886in vNC_000003.11:g.13 1687869_131696886i nv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,869 | 131,696,886 |