nsv3241403
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,970
- 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: 132 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3241403 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 131,098,131 (-15, +15) | 131,117,100 (-15, +15) | ||
| nsv3241403 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 130,816,975 (-15, +15) | 130,835,944 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14308682 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14308682 | Submitted genomic | NC_000003.12:g.(13 1098116_131098146) _(131117085_131117 115)inv18969 | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,098,131 (-15, +15) | 131,117,100 (-15, +15) | ||
| nssv14308682 | Remapped | Perfect | NC_000003.11:g.(13 0816960_130816990) _(130835929_130835 959)inv18969 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 130,816,975 (-15, +15) | 130,835,944 (-15, +15) |