nsv1075589
- 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:153,661
- 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: 978 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1075589 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 141,735,285 | 141,888,945 |
| nsv1075589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 142,745,499 | 142,825,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3765287 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3765287 | Remapped | Pass | NC_000008.11:g.141 735285_141888945de l | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 141,735,285 | 141,888,945 |
| nssv3765287 | Submitted genomic | NC_000008.10:g.142 745499_142825700de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 142,745,499 | 142,825,700 |