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dbVar

Database of genomic structural variation

nsv7094341

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:7,842

Description:NC_000014.8:g.(?_64481620)_(64489461_?)del AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant

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: 88 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):64,014,902-64,022,743

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094341	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	64,014,902	64,022,743
nsv7094341	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	64,481,620	64,489,461

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790272	deletion	Multiple	Multiple	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5; Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003113935.2, VCV002427605.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790272	Remapped	Perfect	NC_000014.9:g.(?_6 4014902)_(64022743 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	64,014,902	64,022,743
nssv18790272	Submitted genomic		NC_000014.8:g.(?_6 4481620)_(64489461 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	64,481,620	64,489,461

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
nssv18790272	GRCh37: NC_000014.8:g.(?_64481620)_(64489461_?)del	deletion	germline	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5; Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003113935.2, VCV002427605.2

No genotype data were submitted for this variant

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