nsv4713039
- 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: 96 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4713039 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 94,753,504 | 94,753,505 |
| nsv4713039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 95,419,249 | 95,419,250 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16234121 | deletion | M456 | Sequencing | Paired-end mapping | 1 | 4,735 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16234121 | Remapped | Perfect | NC_000002.12:g.947 53504_94753505del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 94,753,504 | 94,753,505 |
| nssv16234121 | Submitted genomic | NC_000002.11:g.954 19249_95419250del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,419,249 | 95,419,250 |