nsv4730109
- 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:33,429
- 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: 544 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730109 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 70,329,141 | 70,362,569 | ||
| nsv4730109 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 69,624,968 | 69,658,396 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256676 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256676 | Submitted genomic | NC_000005.10:g.703 29141_70362569inv | GRCh38 (hg38) | NC_000005.10 | Chr5 | 70,329,141 | 70,362,569 | ||
| nssv16256676 | Remapped | Perfect | NC_000005.9:g.6962 4968_69658396inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 69,624,968 | 69,658,396 |