nsv930500
- Organism: Homo sapiens
- Study:nstd78 (Schrider et al. 2013)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:26
- Description:retroCNV insertion of a retrotransposition of TMEM126B mRNA.
- 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: 412 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 412 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv930500 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 122,016,918 | 122,016,943 |
| nsv930500 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 121,150,771 | 121,150,796 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1607695 | insertion | Sequencing | Paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607695 | Remapped | Perfect | NC_000023.11:g.(12 2016918_?)_(?_1220 16943)ins533 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 122,016,918 | 122,016,943 |
| nssv1607695 | Submitted genomic | NC_000023.10:g.(12 1150771_?)_(?_1211 50796)ins533 | GRCh37 (hg19) | NC_000023.10 | ChrX | 121,150,771 | 121,150,796 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv1607695 | 2 | PCR | Manual observation | Pass |