nsv834074
- 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:211,038
- 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: 746 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 747 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv834074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 29,764,908 | 29,975,945 |
| nsv834074 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 31,137,227 | 31,348,263 |
| nsv834074 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000021.7 | Chr21 | 30,059,098 | 30,270,134 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1455576 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1455576 | Remapped | Perfect | NC_000021.9:g.(297 64908_?)_(?_299759 45)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 29,764,908 | 29,975,945 |
| nssv1455576 | Remapped | Perfect | NC_000021.8:g.(311 37227_?)_(?_313482 63)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 31,137,227 | 31,348,263 |
| nssv1455576 | Submitted genomic | NC_000021.7:g.(300 59098_?)_(?_302701 34)del | NCBI35 (hg17) | NC_000021.7 | Chr21 | 30,059,098 | 30,270,134 |