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dbVar

Database of genomic structural variation

nsv7098007

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:1,232

Description:NC_000023.10:g.(?_153607393)_(153608624_?)del AND X-linked Emery-Dreifuss muscular dystrophy
Publication(s):Bonne et al. 2004

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: 95 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):154,379,033-154,380,264

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098007	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	154,379,033	154,380,264
nsv7098007	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	153,607,393	153,608,624

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791184	deletion	Multiple	Multiple	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1; Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy; X linked Emery Dreifuss muscular dystrophy; emery-dreifuss muscular dystrophy 1, x-linked	Pathogenic	ClinVar	RCV003119324.2, VCV002422372.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791184	Remapped	Perfect	NC_000023.11:g.(?_ 154379033)_(154380 264_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	154,379,033	154,380,264
nssv18791184	Submitted genomic		NC_000023.10:g.(?_ 153607393)_(153608 624_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	153,607,393	153,608,624

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
nssv18791184	GRCh37: NC_000023.10:g.(?_153607393)_(153608624_?)del	deletion	germline	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1; Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy; X linked Emery Dreifuss muscular dystrophy; emery-dreifuss muscular dystrophy 1, x-linked	Pathogenic	ClinVar	RCV003119324.2, VCV002422372.2

No genotype data were submitted for this variant

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