nsv1148988
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,094
- Publication(s):John et al. 2014
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: 463 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 463 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1148988 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 193,157,522 | 193,167,615 |
| nsv1148988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 192,875,311 | 192,885,404 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3997775 | deletion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3997775 | Remapped | Perfect | NC_000003.12:g.(19 3157522_?)_(?_1931 67615)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 193,157,522 | 193,167,615 |
| nssv3997775 | Submitted genomic | NC_000003.11:g.(19 2875311_?)_(?_1928 85404)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,875,311 | 192,885,404 |