nsv1128601
- 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:141,865
- 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: 391 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 628 SVs from 57 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1128601 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NT_113793.3 | Chr4|NT_11 3793.3 | - | 2 | 141,866 |
| nsv1128601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 142,535,400 | - | 142,677,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3960512 | duplication | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3960512 | Remapped | Good | NT_113793.3:g.(?_2 )_(?_141866)dup | GRCh38.p12 | First Pass | NT_113793.3 | Chr4|NT_11 3793.3 | - | 2 | 141,866 |
| nssv3960512 | Submitted genomic | NC_000001.10:g.(14 2535400_?)_(?_1426 77300)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 142,535,400 | - | 142,677,300 |