Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4683438

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:40,217

Description:
See descriptions for individual calls in download files
Publication(s):Penttilä 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: 274 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):22,239,559-22,279,775

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683438	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	22,239,559	22,279,775
nsv4683438	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	22,261,105	22,301,321

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213674	duplication	Multiple	Multiple	ANO5-Related Muscle Diseases; Autosomal recessive limb-girdle muscular dystrophy type 2L; GNATHODIAPHYSEAL DYSPLASIA; GDD; Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12; See individual phenotypes in OMIM allelic variants; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001031997.5, VCV000831441.7
nssv17975132	deletion	Multiple	Multiple	ANO5-Related Muscle Diseases; Autosomal recessive limb-girdle muscular dystrophy type 2L; GNATHODIAPHYSEAL DYSPLASIA; GDD; Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12; See individual phenotypes in OMIM allelic variants; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV001939574.5, VCV001454753.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213674	Remapped	Perfect	NC_000011.10:g.(?_ 22239559)_(2227977 5_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	22,239,559	22,279,775
nssv17975132	Remapped	Perfect	NC_000011.10:g.(?_ 22239559)_(2227977 5_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	22,239,559	22,279,775
nssv16213674	Submitted genomic		NC_000011.9:g.(?_2 2261105)_(22301321 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	22,261,105	22,301,321
nssv17975132	Submitted genomic		NC_000011.9:g.(?_2 2261105)_(22301321 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	22,261,105	22,301,321

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
nssv16213674	GRCh37: NC_000011.9:g.(?_22261105)_(22301321_?)dup	duplication	germline	ANO5-Related Muscle Diseases; Autosomal recessive limb-girdle muscular dystrophy type 2L; GNATHODIAPHYSEAL DYSPLASIA; GDD; Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12; See individual phenotypes in OMIM allelic variants; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001031997.5, VCV000831441.7
nssv17975132	GRCh37: NC_000011.9:g.(?_22261105)_(22301321_?)del	deletion	germline	ANO5-Related Muscle Diseases; Autosomal recessive limb-girdle muscular dystrophy type 2L; GNATHODIAPHYSEAL DYSPLASIA; GDD; Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12; See individual phenotypes in OMIM allelic variants; Server error < EMBL-EBI	Pathogenic	ClinVar	RCV001939574.5, VCV001454753.6

No genotype data were submitted for this variant

You are here: NCBI