nsv7095929
- 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:3,512
- Description:NC_000022.10:g.(?_17669209)_(17672720_?)del AND Vasculitis due to ADA2 deficiency
- Publication(s):Aksentijevich et al. 2019
- ClinVar: RCV003107329.1
- ClinVar: VCV002424097.4
- GeneReviews: NBK544951
- MONDO: 0014306
- MedGen: C3887654
- OMIM: 607575.0001
- OMIM: 607575.0002
- OMIM: 607575.0003
- OMIM: 607575.0004
- OMIM: 607575.0005
- OMIM: 607575.0006
- OMIM: 607575.0007
- OMIM: 607575.0008
- OMIM: 607575.0009
- OMIM: 615688
- Orphanet: 404553
- PubMed: 31393689
- Overlapping Genes
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: 82 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 17,188,319 | 17,191,830 |
| nsv7095929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 17,669,209 | 17,672,720 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791889 | deletion | Multiple | Multiple | Adenosine Deaminase 2 Deficiency; POLYARTERITIS NODOSA, CHILDHOOD-ONSET; PAN; Polyarteritis nodosa, childhoood-onset; See individual phenotypes in OMIM allelic variants; Vasculitis due to ADA2 deficiency | Pathogenic | ClinVar | RCV003107329.1, VCV002424097.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791889 | Remapped | Perfect | NC_000022.11:g.(?_ 17188319)_(1719183 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 17,188,319 | 17,191,830 |
| nssv18791889 | Submitted genomic | NC_000022.10:g.(?_ 17669209)_(1767272 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,669,209 | 17,672,720 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791889 | GRCh37: NC_000022.10:g.(?_17669209)_(17672720_?)del | deletion | germline | Adenosine Deaminase 2 Deficiency; POLYARTERITIS NODOSA, CHILDHOOD-ONSET; PAN; Polyarteritis nodosa, childhoood-onset; See individual phenotypes in OMIM allelic variants; Vasculitis due to ADA2 deficiency | Pathogenic | ClinVar | RCV003107329.1, VCV002424097.4 |