nsv5976399
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,520,313
- Description:DESC=[BREAKPOINT1]
- Publication(s):Almarri et al. 2020
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: 10436 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 11601 SVs from 138 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5976399 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 17,577,704 | 20,098,016 | ||
nsv5976399 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 18,057,770 | 20,703,815 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17404412 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17404412 | Submitted genomic | NC_000022.11:g.175 77704_20098016inv | GRCh38 (hg38) | NC_000022.11 | Chr22 | 17,577,704 | 20,098,016 | ||
nssv17404412 | Remapped | Good | NC_000022.10:g.180 57770_20703815inv | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,057,770 | 20,703,815 |