nsv5979505
- 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:966,184
- 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: 1639 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1639 SVs from 78 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5979505 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 46,982,903 | 47,949,086 | ||
nsv5979505 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 47,016,814 | 47,982,997 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17373585 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17373585 | Submitted genomic | NC_000016.10:g.469 82903_47949086inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 46,982,903 | 47,949,086 | ||
nssv17373585 | Remapped | Perfect | NC_000016.9:g.4701 6814_47982997inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 47,016,814 | 47,982,997 |