nsv1397912
- Organism: Homo sapiens
- Study:nstd124 (Binder et al. 2016)
- Variant Type: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: 280 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1397912 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 111,925,293 | 111,925,294 |
| nsv1397912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 112,682,870 | 112,682,871 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv8635346 | insertion | 1 | Sequencing | Paired-end mapping | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS | nssv8635347 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8635346 | Remapped | Perfect | NC_000002.12:g.(11 1925293_?)_(?_1119 25294)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 111,925,293 | 111,925,294 |
| nssv8635346 | Submitted genomic | NC_000002.11:g.(11 2682870_?)_(?_1126 82871)ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 112,682,870 | 112,682,871 |