nsv469504
- 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: 1467 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1469 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 600 SVs from 22 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 |
---|---|---|---|---|---|---|---|---|---|
nsv469504 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 333,830 | 394,034 |
nsv469504 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 333,830 | 394,034 |
nsv469504 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 323,830 | 384,034 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Zygosity |
---|---|---|---|---|---|---|---|---|
nssv544358 | copy number loss | 1-1 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv544358 | Remapped | Perfect | NC_000009.12:g.(?_ 333830)_(394034_?) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 333,830 | 394,034 |
nssv544358 | Remapped | Perfect | NC_000009.11:g.(?_ 333830)_(394034_?) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 333,830 | 394,034 |
nssv544358 | Submitted genomic | NC_000009.10:g.(?_ 323830)_(384034_?) del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 323,830 | 384,034 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv544358 | 2 | 1-1 | PCR | Manual observation | Pass |
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
---|---|---|---|---|---|---|---|---|
nssv544358 | 1-1 | NCBI36: NC_000009.10:g.(?_323830)_(384034_?)del | copy number loss | biparental | Immunologic Deficiency Syndromes | Pathogenic | Submitter | Female |