nsv3168425
- 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:64,373,184
- 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: 170851 SVs from 155 studies. See in: genome view
Overlapping variant regions from other studies: 171113 SVs from 155 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168425 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 3,521,852 (-3, +3) | 67,895,035 (-3, +3) |
| nsv3168425 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 3,543,082 (-3, +3) | 67,662,506 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239696 | duplication | DB97 | Sequencing | Paired-end mapping | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239696 | Remapped | Good | NC_000011.10:g.(35 21849_3521855)_(67 895032_67895038)du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 3,521,852 (-3, +3) | 67,895,035 (-3, +3) |
| nssv14239696 | Submitted genomic | NC_000011.9:g.(354 3079_3543085)_(676 62503_67662509)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 3,543,082 (-3, +3) | 67,662,506 (-3, +3) |