nsv832791
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:219,632
- Publication(s):Wong et al. 2006
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: 600 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv832791 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 48,509,704 | 48,729,335 |
| nsv832791 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 48,978,907 | 49,198,538 |
| nsv832791 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 48,048,657 | 48,268,288 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1450957 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1450957 | Remapped | Perfect | NC_000014.9:g.(485 09704_?)_(?_487293 35)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 48,509,704 | 48,729,335 |
| nssv1450957 | Remapped | Perfect | NC_000014.8:g.(489 78907_?)_(?_491985 38)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 48,978,907 | 49,198,538 |
| nssv1450957 | Submitted genomic | NC_000014.7:g.(480 48657_?)_(?_482682 88)dup | NCBI35 (hg17) | NC_000014.7 | Chr14 | 48,048,657 | 48,268,288 |