nsv930479
- Organism: Homo sapiens
- Study:nstd78 (Schrider et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Fail
- Clinical Assertions: No
- Region Size:618
- Description:A processed transcript of the RPL18A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion.
- Publication(s):Schrider et al. 2013
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: 116 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv930479 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 104,265,274 | 104,265,891 |
| nsv930479 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 104,659,052 | 104,659,669 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1607670 | deletion | Sequencing | Paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607670 | Remapped | Perfect | NC_000012.12:g.(10 4265274_?)_(?_1042 65891)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 104,265,274 | 104,265,891 |
| nssv1607670 | Submitted genomic | NC_000012.11:g.(10 4659052_?)_(?_1046 59669)del617 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 104,659,052 | 104,659,669 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv1607670 | 2 | PCR | Manual observation | Fail |