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dbVar

Database of genomic structural variation

nsv6309225

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:92,231

Description:NC_000011.9:g.(?_62380754)_(62472984_?)dup AND Larsen-like syndrome, B3GAT3 type
Publication(s):Cirino et al. 2008, Superti-Furga et al. 2011

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: 371 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):62,613,282-62,705,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309225	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	62,613,282	62,705,512
nsv6309225	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	62,380,754	62,472,984

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974762	duplication	Multiple	Multiple	CHST3-Related Skeletal Dysplasia; Larsen-like syndrome, B3GAT3 type; Larsen-like syndrome, B3GAT3 type; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD	Uncertain significance	ClinVar	RCV001918889.3, VCV001411712.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974762	Remapped	Perfect	NC_000011.10:g.(?_ 62613282)_(6270551 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	62,613,282	62,705,512
nssv17974762	Submitted genomic		NC_000011.9:g.(?_6 2380754)_(62472984 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	62,380,754	62,472,984

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
nssv17974762	GRCh37: NC_000011.9:g.(?_62380754)_(62472984_?)dup	duplication	germline	CHST3-Related Skeletal Dysplasia; Larsen-like syndrome, B3GAT3 type; Larsen-like syndrome, B3GAT3 type; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD	Uncertain significance	ClinVar	RCV001918889.3, VCV001411712.3

No genotype data were submitted for this variant

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