nsv3168066
- 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:41,098
- 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: 937 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 937 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168066 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 1,253,835 (-447, +447) | 1,294,932 (-447, +447) |
| nsv3168066 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 1,253,950 (-447, +447) | 1,295,047 (-447, +447) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239124 | deletion | DB113 | Sequencing | Paired-end mapping | 50 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239124 | Remapped | Perfect | NC_000005.10:g.(12 53388_1254282)_(12 94485_1295379)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,253,835 (-447, +447) | 1,294,932 (-447, +447) |
| nssv14239124 | Submitted genomic | NC_000005.9:g.(125 3503_1254397)_(129 4600_1295494)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,253,950 (-447, +447) | 1,295,047 (-447, +447) |