nsv5564411
- 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:10,169
- Description:NC_000022.10:g.(?_17680419)_(17690587_?)dup AND Vasculitis due to ADA2 deficiency
- Publication(s):Aksentijevich et al. 2019
- ClinVar: RCV001372210.1
- ClinVar: VCV001062486.1
- 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: 95 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 17,199,529 | 17,209,697 |
| nsv5564411 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 17,680,419 | 17,690,587 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059254 | duplication | 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 | Uncertain significance | ClinVar | RCV001372210.1, VCV001062486.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059254 | Remapped | Perfect | NC_000022.11:g.(?_ 17199529)_(1720969 7_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 17,199,529 | 17,209,697 |
| nssv17059254 | Submitted genomic | NC_000022.10:g.(?_ 17680419)_(1769058 7_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,680,419 | 17,690,587 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059254 | GRCh37: NC_000022.10:g.(?_17680419)_(17690587_?)dup | duplication | 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 | Uncertain significance | ClinVar | RCV001372210.1, VCV001062486.1 |