nsv3168616
- 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:23,413,548
- 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: 61547 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 61542 SVs from 137 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168616 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 63,157,182 (-234, +234) | 86,570,729 (-234, +234) |
| nsv3168616 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 63,623,900 (-234, +234) | 87,037,073 (-234, +234) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239694 | duplication | DB56 | Sequencing | Paired-end mapping | 34 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239694 | Remapped | Good | NC_000014.9:g.(631 56948_63157416)_(8 6570495_86570963)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 63,157,182 (-234, +234) | 86,570,729 (-234, +234) |
| nssv14239694 | Submitted genomic | NC_000014.8:g.(636 23666_63624134)_(8 7036839_87037307)d up | GRCh37 (hg19) | NC_000014.8 | Chr14 | 63,623,900 (-234, +234) | 87,037,073 (-234, +234) |