nsv3168147
- 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:37,137
- 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: 8 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168147 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_113901.1 | Unplaced|N T_113901.1 | 30,532 (-346, +346) | 67,668 (-346, +346) |
| nsv3168147 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NT_113901.1 | Chr7|NT_11 3901.1 | 30,532 (-346, +346) | 67,668 (-346, +346) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239434 | deletion | DB93 | Sequencing | Paired-end mapping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239434 | Remapped | Perfect | NT_113901.1:g.(301 86_30878)_(67322_6 8014)del | GRCh38.p12 | First Pass | NT_113901.1 | Unplaced|N T_113901.1 | 30,532 (-346, +346) | 67,668 (-346, +346) |
| nssv14239434 | Submitted genomic | NT_113901.1:g.(301 86_30878)_(67322_6 8014)del | GRCh37 (hg19) | NT_113901.1 | Chr7|NT_11 3901.1 | 30,532 (-346, +346) | 67,668 (-346, +346) |