nsv4730125
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,102
- Publication(s):Hanlon et al. 2021
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: 174 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 179 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730125 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 227,496,630 | 227,504,731 | ||
| nsv4730125 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 227,684,331 | 227,692,432 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257458 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16258763 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257458 | Submitted genomic | NC_000001.11:g.227 496630_227504731in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 227,496,630 | 227,504,731 | ||
| nssv16258763 | Submitted genomic | NC_000001.11:g.227 499038_227502202in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 227,499,038 | 227,502,202 | ||
| nssv16257458 | Remapped | Perfect | NC_000001.10:g.227 684331_227692432in v | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 227,684,331 | 227,692,432 |
| nssv16258763 | Remapped | Perfect | NC_000001.10:g.227 686739_227689903in v | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 227,686,739 | 227,689,903 |