nsv4767299
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134,048
- Publication(s):Quan 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: 1309 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1490 SVs from 113 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4767299 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,288 | 564,335 |
| nsv4767299 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,195,078 | 2,329,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16290506 | inversion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16290506 | Remapped | Good | NT_187576.1:g.4302 88_564335inv | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,288 | 564,335 |
| nssv16290506 | Submitted genomic | NC_000008.10:g.219 5078_2329211inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,195,078 | 2,329,211 |