nsv5893478
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,513
- 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: 570 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 570 SVs from 76 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5893478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 68,744,526 | 68,822,038 | ||
nsv5893478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 69,610,244 | 69,687,756 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17426959 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17426959 | Submitted genomic | NC_000004.12:g.687 44526_68822038del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 68,744,526 | 68,822,038 | ||
nssv17426959 | Remapped | Perfect | NC_000004.11:g.696 10244_69687756del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,610,244 | 69,687,756 |