nsv5564202
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:396,763
- Description:NC_000006.11:g.(?_137143759)_(137540520_?)dup AND Disseminated atypical mycobacterial infection
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1103 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1103 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564202 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 136,822,621 | 137,219,383 |
| nsv5564202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 137,143,759 | 137,540,520 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976321 | duplication | Multiple | Multiple | Disseminated atypical mycobacterial infection | Uncertain significance | ClinVar | RCV002242664.9, VCV001062411.37 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976321 | Remapped | Perfect | NC_000006.12:g.(?_ 136822621)_(137219 383_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 136,822,621 | 137,219,383 |
| nssv17976321 | Submitted genomic | NC_000006.11:g.(?_ 137143759)_(137540 520_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 137,143,759 | 137,540,520 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976321 | GRCh37: NC_000006.11:g.(?_137143759)_(137540520_?)dup | duplication | germline | Disseminated atypical mycobacterial infection | Uncertain significance | ClinVar | RCV002242664.9, VCV001062411.37 |