nsv1126862
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:153,661
- Publication(s):Alsmadi et al. 2014
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: 972 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1126862 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | - | 141,735,285 | 141,888,945 | - |
| nsv1126862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 142,745,700 | - | - | 142,825,800 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3985138 | deletion | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv3985138 | Remapped | Pass | NC_000008.11:g.(?_ 141735285)_(141888 945_?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | - | 141,735,285 | 141,888,945 | - |
| nssv3985138 | Submitted genomic | NC_000008.10:g.(14 2745700_?)_(?_1428 25800)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 142,745,700 | - | - | 142,825,800 |