nsv5970408
- 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:5,354,111
- 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: 24765 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 24747 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5970408 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 2,282,477 | 7,636,587 | ||
nsv5970408 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 2,282,476 | 7,701,473 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17396638 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17396638 | Submitted genomic | NC_000019.10:g.228 2477_7636587inv | GRCh38 (hg38) | NC_000019.10 | Chr19 | 2,282,477 | 7,636,587 | ||
nssv17396638 | Remapped | Good | NC_000019.9:g.2282 476_7701473inv | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 2,282,476 | 7,701,473 |