nsv930502
- 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:Yes
- Clinical Assertions: No
- Region Size:712
- Description:A processed transcript of the ITGB1 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: 306 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv930502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 14,621,533 | 14,622,244 |
| nsv930502 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 14,732,345 | 14,733,056 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1607668 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607668 | Remapped | Perfect | NC_000019.10:g.(14 621533_?)_(?_14622 244)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 14,621,533 | 14,622,244 |
| nssv1607668 | Submitted genomic | NC_000019.9:g.(147 32345_?)_(?_147330 56)del711 | GRCh37 (hg19) | NC_000019.9 | Chr19 | 14,732,345 | 14,733,056 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv1607668 | 2 | PCR | Manual observation | Pass |