nsv469505
- Organism: Homo sapiens
- Study:nstd28 (Zhang et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Publication(s):Zhang et al. 2009
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: 1829 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1831 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 715 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv469505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 311,734 | 398,139 |
| nsv469505 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 311,734 | 398,139 |
| nsv469505 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 301,734 | 388,139 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Zygosity |
|---|---|---|---|---|---|---|---|---|
| nssv544359 | copy number loss | 2-1 | Oligo aCGH | Probe signal intensity | Immunologic Deficiency Syndromes | Pathogenic | Submitter | Homozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv544359 | Remapped | Perfect | NC_000009.12:g.(?_ 311734)_(398139_?) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 311,734 | 398,139 |
| nssv544359 | Remapped | Perfect | NC_000009.11:g.(?_ 311734)_(398139_?) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 311,734 | 398,139 |
| nssv544359 | Submitted genomic | NC_000009.10:g.(?_ 301734)_(388139_?) del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 301,734 | 388,139 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv544359 | 2 | 2-1 | PCR | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| nssv544359 | 2-1 | NCBI36: NC_000009.10:g.(?_301734)_(388139_?)del | copy number loss | de novo | Immunologic Deficiency Syndromes | Pathogenic | Submitter | Male |