nsv469507
- 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: 3745 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 3631 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1247 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv469507 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 163,190 | 204,193 | 538,588 | 544,450 |
| nsv469507 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | - | 199,707 | 538,588 | 544,450 |
| nsv469507 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 153,190 | 194,193 | 528,588 | 534,450 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Zygosity |
|---|---|---|---|---|---|---|---|---|
| nssv544361 | copy number loss | 4-1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv544361 | Remapped | Perfect | NC_000009.12:g.(16 3190_204193)_(5385 88_544450)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 163,190 | 204,193 | 538,588 | 544,450 |
| nssv544361 | Remapped | Pass | NC_000009.11:g.(?_ 199707)_(538588_54 4450)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | - | 199,707 | 538,588 | 544,450 |
| nssv544361 | Submitted genomic | NC_000009.10:g.(15 3190_194193)_(5285 88_534450)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 153,190 | 194,193 | 528,588 | 534,450 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv544361 | 3 | 4-1 | Western | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| nssv544361 | 4-1 | NCBI36: NC_000009.10:g.(153190_194193)_(528588_534450)del | copy number loss | paternal | Immunologic Deficiency Syndromes | Pathogenic | Submitter | Male |