nsv1142109
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,830
- 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: 342 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 342 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1142109 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 48,517,782 | 48,545,611 |
| nsv1142109 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 48,539,334 | 48,567,163 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3993612 | tandem duplication | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3993612 | Remapped | Perfect | NC_000011.10:g.(48 517782_?)_(?_48545 611)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 48,517,782 | 48,545,611 |
| nssv3993612 | Submitted genomic | NC_000011.9:g.(485 39334_?)_(?_485671 63)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 48,539,334 | 48,567,163 |