nsv930467
- 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:1,678
- Description:A processed transcript of the SMS 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: 131 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv930467 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 160,894,889 | 160,896,566 |
| nsv930467 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 160,864,679 | 160,866,356 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1607678 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607678 | Remapped | Perfect | NC_000001.11:g.(16 0894889_?)_(?_1608 96566)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 160,894,889 | 160,896,566 |
| nssv1607678 | Submitted genomic | NC_000001.10:g.(16 0864679_?)_(?_1608 66356)del1668 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 160,864,679 | 160,866,356 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv1607678 | 2 | PCR | Manual observation | Fail |