nsv938875
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:75,646
- Publication(s):de Ligt et al. 2013
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: 366 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 366 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 | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv938875 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 108,974,535 | 108,974,535 | 109,050,180 | 109,050,180 |
| nsv938875 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 109,895,691 | 109,895,691 | 109,971,336 | 109,971,336 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1662586 | copy number loss | 9 | Sequencing | Read depth | 1 | 1,161 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1662586 | Remapped | Perfect | NC_000004.12:g.(10 8974535_?)_(?_1090 50180)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 108,974,535 | 109,050,180 |
| nssv1662586 | Submitted genomic | NC_000004.11:g.(10 9895691_?)_(?_1099 71336)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 109,895,691 | 109,971,336 |