nsv937799
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:336,294
- 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: 1668 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 1670 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv937799 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 20,057,767 | 20,057,767 | 20,394,060 | 20,394,060 |
| nsv937799 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 22,219,653 | 22,219,653 | 22,555,946 | 22,555,946 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1663665 | copy number loss | 9 | Oligo aCGH | Probe signal intensity | 1 | 1,161 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1663665 | Remapped | Perfect | NC_000024.10:g.(20 057767_?)_(?_20394 060)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 20,057,767 | 20,394,060 |
| nssv1663665 | Submitted genomic | NC_000024.9:g.(222 19653_?)_(?_225559 46)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 22,219,653 | 22,555,946 |