nsv4730268
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,717
- 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: 211 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730268 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 25,767,669 | 25,779,385 | ||
| nsv4730268 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 25,748,305 | 25,760,021 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256099 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256099 | Submitted genomic | NC_000020.11:g.257 67669_25779385inv | GRCh38 (hg38) | NC_000020.11 | Chr20 | 25,767,669 | 25,779,385 | ||
| nssv16256099 | Remapped | Perfect | NC_000020.10:g.257 48305_25760021inv | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 25,748,305 | 25,760,021 |