nsv5969472
- 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:2,043,935
- 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: 5294 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5286 SVs from 116 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5969472 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 16,657,579 | 18,701,513 | ||
nsv5969472 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,751,436 | 18,712,835 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17375403 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17375403 | Submitted genomic | NC_000016.10:g.166 57579_18701513inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 16,657,579 | 18,701,513 | ||
nssv17375403 | Remapped | Good | NC_000016.9:g.1675 1436_18712835inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,751,436 | 18,712,835 |