nsv930471
- 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:465
- Description:A processed transcript of the RPS26 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: 328 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv930471 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,608,540 | 45,609,003 |
| nsv930471 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 310,676 | 311,140 |
| nsv930471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,685,906 | 43,686,369 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1607675 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607675 | Remapped | Good | NT_187663.1:g.(310 676_?)_(?_311140)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 310,676 | 311,140 |
| nssv1607675 | Remapped | Perfect | NC_000017.11:g.(45 608540_?)_(?_45609 003)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,608,540 | 45,609,003 |
| nssv1607675 | Submitted genomic | NC_000017.10:g.(43 685906_?)_(?_43686 369)del445 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,685,906 | 43,686,369 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv1607675 | 2 | PCR | Manual observation | Fail |