nsv3168708
- 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:1,081
- 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: 2 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168708 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_167219.1 | Chr14|NT_1 67219.1 | 116,838 (-324, +324) | 117,918 (-324, +324) |
| nsv3168708 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NT_167219.1 | Unplaced|N T_167219.1 | 116,838 (-324, +324) | 117,918 (-324, +324) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14240398 | duplication | DB79 | Sequencing | Paired-end mapping | 61 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14240398 | Remapped | Perfect | NT_167219.1:g.(116 514_117162)_(11759 4_118242)dup | GRCh38.p12 | First Pass | NT_167219.1 | Chr14|NT_1 67219.1 | 116,838 (-324, +324) | 117,918 (-324, +324) |
| nssv14240398 | Submitted genomic | NT_167219.1:g.(116 514_117162)_(11759 4_118242)dup | GRCh37 (hg19) | NT_167219.1 | Unplaced|N T_167219.1 | 116,838 (-324, +324) | 117,918 (-324, +324) |