nsv4716393
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha et al. 2021
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: 1186 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 834 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716393 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,890,453 | 18,890,454 |
| nsv4716393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,877,966 | 18,877,967 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16239595 | deletion | M478 | Sequencing | Paired-end mapping | 1 | 4,557 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16239595 | Remapped | Perfect | NC_000022.11:g.188 90453_18890454del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,890,453 | 18,890,454 |
| nssv16239595 | Submitted genomic | NC_000022.10:g.188 77966_18877967del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,877,966 | 18,877,967 |