nsv3168266
- 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:166,103
- 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: 853 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 853 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168266 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,833,374 (-267, +267) | 78,999,476 (-267, +267) |
| nsv3168266 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 78,867,271 (-267, +267) | 79,033,373 (-267, +267) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239718 | duplication | DB84 | Sequencing | Paired-end mapping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239718 | Remapped | Perfect | NC_000016.10:g.(78 833107_78833641)_( 78999209_78999743) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,833,374 (-267, +267) | 78,999,476 (-267, +267) |
| nssv14239718 | Submitted genomic | NC_000016.9:g.(788 67004_78867538)_(7 9033106_79033640)d up | GRCh37 (hg19) | NC_000016.9 | Chr16 | 78,867,271 (-267, +267) | 79,033,373 (-267, +267) |