nsv1126255
- 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:93,701
- 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: 1784 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1126255 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,981,762 | 47,075,462 |
| nsv1126255 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 48,663,900 | 48,757,600 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3984488 | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3984488 | Remapped | Perfect | NC_000010.11:g.(46 981762_?)_(?_47075 462)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,981,762 | 47,075,462 |
| nssv3984488 | Submitted genomic | NC_000010.10:g.(48 663900_?)_(?_48757 600)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 48,663,900 | 48,757,600 |