nsv1397913
- Organism: Homo sapiens
- Study:nstd124 (Binder et al. 2016)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Binder et al. 2016
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: 308 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 308 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1397913 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 111,958,983 | 111,958,984 |
| nsv1397913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 112,716,560 | 112,716,561 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv8635347 | alu insertion | 1 | Sequencing | Paired-end mapping | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS | nssv8635346 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8635347 | Remapped | Perfect | NC_000002.12:g.(11 1958983_?)_(?_1119 58984)ins326 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 111,958,983 | 111,958,984 |
| nssv8635347 | Submitted genomic | NC_000002.11:g.(11 2716560_?)_(?_1127 16561)ins326 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 112,716,560 | 112,716,561 |