nsv1074723
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,702
- Publication(s):Thareja et al. 2015
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: 1929 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1929 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1074723 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,525,481 | 68,591,182 |
| nsv1074723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,391,199 | 69,456,900 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3762440 | deletion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3762440 | Remapped | Perfect | NC_000004.12:g.685 25481_68591182del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,525,481 | 68,591,182 |
| nssv3762440 | Submitted genomic | NC_000004.11:g.693 91199_69456900del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,391,199 | 69,456,900 |