nsv935462
- 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:166,267
- 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: 1008 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1560 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv935462 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,685,075 | 61,685,075 |
| nsv935462 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 44,676,419 | 44,676,419 | 44,892,913 | 44,892,913 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1662381 | copy number gain | 6 | Oligo aCGH | Probe signal intensity | 3 | 980 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv1662381 | Remapped | Pass | NC_000009.12:g.(?_ 61518809)_(?_61685 075)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,685,075 |
| nssv1662381 | Submitted genomic | NC_000009.11:g.(44 676419_?)_(?_44892 913)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,676,419 | - | 44,892,913 |