nsv469509
- 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: 1592 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1594 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 642 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv469509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 340,142 | 356,079 | 405,056 | 416,292 |
| nsv469509 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 340,142 | 356,079 | 405,056 | 416,292 |
| nsv469509 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 330,142 | 346,079 | 395,056 | 406,292 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Zygosity |
|---|---|---|---|---|---|---|---|---|
| nssv544363 | copy number loss | 6-1 | Oligo aCGH | Probe signal intensity | Immunologic Deficiency Syndromes | Pathogenic | Submitter | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv544363 | Remapped | Perfect | NC_000009.12:g.(34 0142_356079)_(4050 56_416292)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 340,142 | 356,079 | 405,056 | 416,292 |
| nssv544363 | Remapped | Perfect | NC_000009.11:g.(34 0142_356079)_(4050 56_416292)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 340,142 | 356,079 | 405,056 | 416,292 |
| nssv544363 | Submitted genomic | NC_000009.10:g.(33 0142_346079)_(3950 56_406292)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 330,142 | 346,079 | 395,056 | 406,292 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv544363 | 3 | 6-1 | Western | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| nssv544363 | 6-1 | NCBI36: NC_000009.10:g.(330142_346079)_(395056_406292)del | copy number loss | paternal | Immunologic Deficiency Syndromes | Pathogenic | Submitter | Male |