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dbVar

Database of genomic structural variation

nsv7098714

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:79,279

Description:NC_000023.10:g.(22151742_22186428)_(22208620_2
2231020)dup 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: 211 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):22,133,625-22,212,903

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7098714	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	22,133,625	22,168,311	22,190,503	22,212,903
nsv7098714	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	22,151,742	22,186,428	22,208,620	22,231,020

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792604	duplication	Multiple	Multiple	Familial X-linked hypophosphatemic vitamin D refractory rickets; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR; X-Linked Hypophosphatemia; X-linked hypophosphatemia	Likely pathogenic	ClinVar	RCV003155817.1, VCV002445898.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18792604	Remapped	Perfect	NC_000023.11:g.(22 133625_22168311)_( 22190503_22212903) dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,133,625	22,168,311	22,190,503	22,212,903
nssv18792604	Submitted genomic		NC_000023.10:g.(22 151742_22186428)_( 22208620_22231020) dup	GRCh37 (hg19)		NC_000023.10	ChrX	22,151,742	22,186,428	22,208,620	22,231,020

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
nssv18792604	GRCh37: NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup	duplication	germline	Familial X-linked hypophosphatemic vitamin D refractory rickets; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR; X-Linked Hypophosphatemia; X-linked hypophosphatemia	Likely pathogenic	ClinVar	RCV003155817.1, VCV002445898.1

No genotype data were submitted for this variant

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