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dbVar

Database of genomic structural variation

nsv6312709

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:1,262,489

Description:
See descriptions for individual calls in download files
Publication(s):Manole et al. 2015, Pfendner et al. 1998, Pfendner et al. 2008

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: 7069 SVs from 110 studies. See in: genome view

Remapped(Score: Pass):143,213,268-144,475,756

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312709	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	143,213,268	144,475,756
nsv6312709	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	144,295,143	145,701,139

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971942	deletion	Multiple	Multiple	Autosomal recessive limb-girdle muscular dystrophy type 2Q; EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD; EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND; EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA; EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; EBSOG; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex, Ogna type; Limb-girdle muscular dystrophy, type 2Q; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001962911.3, VCV001454990.7
nssv17975146	deletion	Multiple	Multiple	BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2; Brown-Vialetto-Van Laere syndrome 2; Riboflavin transporter deficiency	Pathogenic	ClinVar	RCV001939634.3, VCV001454990.7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971942	Remapped	Pass	NC_000008.11:g.(?_ 143213268)_(144475 756_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	143,213,268	144,475,756
nssv17975146	Remapped	Pass	NC_000008.11:g.(?_ 143213268)_(144475 756_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	143,213,268	144,475,756
nssv17971942	Submitted genomic		NC_000008.10:g.(?_ 144295143)_(145701 139_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	144,295,143	145,701,139
nssv17975146	Submitted genomic		NC_000008.10:g.(?_ 144295143)_(145701 139_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	144,295,143	145,701,139

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
nssv17971942	GRCh37: NC_000008.10:g.(?_144295143)_(145701139_?)del	deletion	germline	Autosomal recessive limb-girdle muscular dystrophy type 2Q; EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD; EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND; EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA; EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; EBSOG; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex, Ogna type; Limb-girdle muscular dystrophy, type 2Q; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001962911.3, VCV001454990.7
nssv17975146	GRCh37: NC_000008.10:g.(?_144295143)_(145701139_?)del	deletion	germline	BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2; Brown-Vialetto-Van Laere syndrome 2; Riboflavin transporter deficiency	Pathogenic	ClinVar	RCV001939634.3, VCV001454990.7

No genotype data were submitted for this variant

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