nsv944570
- 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:86,298
- 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: 1714 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1714 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv944570 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 297,185 | 297,185 | 383,482 | 383,482 |
| nsv944570 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 297,185 | 297,185 | 383,482 | 383,482 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1665387 | copy number gain | 7 | Oligo aCGH | Probe signal intensity | 3 | 873 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1665387 | Remapped | Perfect | NC_000006.12:g.(29 7185_?)_(?_383482) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 297,185 | 383,482 |
| nssv1665387 | Submitted genomic | NC_000006.11:g.(29 7185_?)_(?_383482) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 297,185 | 383,482 |