nsv1132912
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:146
- 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: 477 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1132912 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,142,312 | 46,142,457 |
| nsv1132912 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 1,371 | 1,516 |
| nsv1132912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,562,226 | 47,562,371 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3987706 | insertion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3987706 | Remapped | Perfect | NT_187626.1:g.(137 1_?)_(?_1516)ins? | GRCh38.p12 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 1,371 | 1,516 |
| nssv3987706 | Remapped | Perfect | NC_000021.9:g.(461 42312_?)_(?_461424 57)ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,142,312 | 46,142,457 |
| nssv3987706 | Submitted genomic | NC_000021.8:g.(475 62226_?)_(?_475623 71)ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,562,226 | 47,562,371 |