nsv4458074
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,322
- Description:NC_000023.11:g.48681722_48688043inv AND Wiskott-Aldrich syndrome
- Publication(s):Chandra et al. 2004
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 133 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4458074 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 48,681,722 | 48,688,043 |
| nsv4458074 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,540,111 | 48,546,432 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15773851 | inversion | Multiple | Multiple | WAS-Related Disorders; WISKOTT-ALDRICH SYNDROME; WAS; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome | Pathogenic | ClinVar | RCV000791262.1, VCV000638576.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15773851 | Submitted genomic | NC_000023.11:g.486 81722_48688043inv6 322 | GRCh38 (hg38) | NC_000023.11 | ChrX | 48,681,722 | 48,688,043 |
| nssv15773851 | Submitted genomic | NC_000023.10:g.485 40111_48546432inv6 322 | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,540,111 | 48,546,432 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15773851 | GRCh37: NC_000023.10:g.48540111_48546432inv6322, GRCh38: NC_000023.11:g.48681722_48688043inv6322 | inversion | maternal | WAS-Related Disorders; WISKOTT-ALDRICH SYNDROME; WAS; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome | Pathogenic | ClinVar | RCV000791262.1, VCV000638576.1 |