nsv3881383
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,926
- Description:NC_000023.10:g.(22051242_22056586)_(22056656_2
2065167)del AND Familial X-linked hypophosphatemic vitamin D refractory rickets - Publication(s):Ruppe et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 155 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3881383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 22,033,124 | 22,038,468 | 22,038,538 | 22,047,049 |
nsv3881383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 22,051,242 | 22,056,586 | 22,056,656 | 22,065,167 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15130743 | deletion | Multiple | Multiple | Familial X-linked hypophosphatemic vitamin D refractory rickets; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR; X-Linked Hypophosphatemia; X-linked hypophosphatemia | Pathogenic | ClinVar | RCV000505493.2, VCV000438497.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15130743 | Submitted genomic | NC_000023.11:g.(22 033124_22038468)_( 22038538_22047049) del | GRCh38 (hg38) | NC_000023.11 | ChrX | 22,033,124 | 22,038,468 | 22,038,538 | 22,047,049 |
nssv15130743 | Submitted genomic | NC_000023.10:g.(22 051242_22056586)_( 22056656_22065167) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,051,242 | 22,056,586 | 22,056,656 | 22,065,167 |
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 |
---|---|---|---|---|---|---|---|
nssv15130743 | GRCh37: NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del, GRCh38: NC_000023.11:g.(22033124_22038468)_(22038538_22047049)del | deletion | see ClinVar for details | Familial X-linked hypophosphatemic vitamin D refractory rickets; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR; X-Linked Hypophosphatemia; X-linked hypophosphatemia | Pathogenic | ClinVar | RCV000505493.2, VCV000438497.2 |