nsv5852139
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,767
- 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: 86 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5852139 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 110,473,249 | 110,476,015 | ||
| nsv5852139 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 110,911,054 | 110,913,820 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv17450405 | copy number variation | Sequencing | Sequence alignment | 0 |
| nssv17461326 | copy number variation | Sequencing | Sequence alignment | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17450405 | Submitted genomic | GRCh38 (hg38) | NC_000012.12 | Chr12 | 110,473,249 | 110,476,015 | ||
| nssv17461326 | Submitted genomic | GRCh38 (hg38) | NC_000012.12 | Chr12 | 110,473,249 | 110,476,015 | ||
| nssv17450405 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 110,911,054 | 110,913,820 |
| nssv17461326 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 110,911,054 | 110,913,820 |