nsv5979532
- 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:5,345,383
- 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: 18586 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 18595 SVs from 125 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5979532 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 4,147,913 | 9,493,295 | ||
nsv5979532 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 4,149,640 | 9,494,939 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17419382 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17419382 | Submitted genomic | NC_000004.12:g.414 7913_9493295inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 4,147,913 | 9,493,295 | ||
nssv17419382 | Remapped | Good | NC_000004.11:g.414 9640_9494939inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 4,149,640 | 9,494,939 |