nsv869553
- Organism: Homo sapiens
- Study:nstd59 (Lopez-Herrera et al. 2012)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:111,114
- Publication(s):Lopez-Herrera et al. 2012
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: 583 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 583 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv869553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 150,971,137 | 151,082,250 |
| nsv869553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 151,892,289 | 152,003,402 |
| nsv869553 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 152,111,739 | 152,222,852 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| nssv1495772 | deletion | 1 | Sequencing | Sequence alignment | Common Variable Immunodeficiency | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1495772 | Remapped | Perfect | NC_000004.12:g.150 971137_151082250de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 150,971,137 | 151,082,250 |
| nssv1495772 | Remapped | Perfect | NC_000004.11:g.151 892289_152003402de l | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 151,892,289 | 152,003,402 |
| nssv1495772 | Submitted genomic | NC_000004.10:g.152 111739_152222852de l | NCBI36 (hg18) | NC_000004.10 | Chr4 | 152,111,739 | 152,222,852 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv1495772 | 1 | NCBI36: NC_000004.10:g.152111739_152222852del | deletion | Common Variable Immunodeficiency | Pathogenic | Submitter |