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dbVar

Database of genomic structural variation

nsv6312470

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:1,662

Description:
See descriptions for individual calls in download files

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: 120 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):1,610,446-1,612,107

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312470	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	1,610,446	1,612,107
nsv6312470	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	1,610,681	1,612,342

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974879	duplication	Multiple	Multiple	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3	Uncertain significance	ClinVar	RCV001923729.5, VCV001421279.5
nssv18791957	deletion	Multiple	Multiple	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3	Pathogenic	ClinVar	RCV003107401.1, VCV002424168.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974879	Remapped	Perfect	NC_000006.12:g.(?_ 1610446)_(1612107_ ?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	1,610,446	1,612,107
nssv18791957	Remapped	Perfect	NC_000006.12:g.(?_ 1610446)_(1612107_ ?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	1,610,446	1,612,107
nssv17974879	Submitted genomic		NC_000006.11:g.(?_ 1610681)_(1612342_ ?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	1,610,681	1,612,342
nssv18791957	Submitted genomic		NC_000006.11:g.(?_ 1610681)_(1612342_ ?)del	GRCh37 (hg19)		NC_000006.11	Chr6	1,610,681	1,612,342

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
nssv17974879	GRCh37: NC_000006.11:g.(?_1610681)_(1612342_?)dup	duplication	germline	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3	Uncertain significance	ClinVar	RCV001923729.5, VCV001421279.5
nssv18791957	GRCh37: NC_000006.11:g.(?_1610681)_(1612342_?)del	deletion	germline	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3	Pathogenic	ClinVar	RCV003107401.1, VCV002424168.2

No genotype data were submitted for this variant

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