nsv3169136
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:114,777
- Publication(s):Cleal et al. 2019
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: 606 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 612 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3169136 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,972,197 (-141, +141) | 29,086,973 (-141, +141) |
| nsv3169136 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,972,195 (-141, +141) | 29,086,971 (-141, +141) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239635 | duplication | DB96 | Sequencing | Paired-end mapping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239635 | Remapped | Perfect | NC_000009.12:g.(28 972056_28972338)_( 29086832_29087114) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,972,197 (-141, +141) | 29,086,973 (-141, +141) |
| nssv14239635 | Submitted genomic | NC_000009.11:g.(28 972054_28972336)_( 29086830_29087112) dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,972,195 (-141, +141) | 29,086,971 (-141, +141) |