nsv5972188
- 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:2,381
- 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: 250 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5972188 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 127,936,244 | 127,938,624 | ||
nsv5972188 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 128,948,490 | 128,950,870 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17429921 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17429921 | Submitted genomic | NC_000008.11:g.127 936244_127938624in v | GRCh38 (hg38) | NC_000008.11 | Chr8 | 127,936,244 | 127,938,624 | ||
nssv17429921 | Remapped | Perfect | NC_000008.10:g.128 948490_128950870in v | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 128,948,490 | 128,950,870 |