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dbVar

Database of genomic structural variation

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

Links to Other Resources

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: 155 SVs from 22 studies. See in: genome view

Submitted genomic22,033,124-22,047,049

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

No genotype data were submitted for this variant

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