nsv5971027
- 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:1,231,765
- 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: 3163 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3163 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5971027 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 124,139,652 | 125,371,416 | ||
nsv5971027 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 123,475,345 | 124,707,109 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17418470 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17418470 | Submitted genomic | NC_000005.10:g.124 139652_125371416in v | GRCh38 (hg38) | NC_000005.10 | Chr5 | 124,139,652 | 125,371,416 | ||
nssv17418470 | Remapped | Perfect | NC_000005.9:g.1234 75345_124707109inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 123,475,345 | 124,707,109 |