nsv1117303
- 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:22,499
- 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: 254 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1117303 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,020,183 | 13,042,681 |
| nsv1117303 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,392,504 | 14,415,002 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3979491 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3979491 | Remapped | Perfect | NC_000021.9:g.(130 20183_?)_(?_130426 81)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,020,183 | 13,042,681 |
| nssv3979491 | Submitted genomic | NC_000021.8:g.(143 92504_?)_(?_144150 02)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,392,504 | 14,415,002 |