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dbVar

Database of genomic structural variation

nsv7097816

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:1,573

Description:NC_000006.11:g.(?_1609367)_(1610939_?)del AND Axenfeld-Rieger syndrome type 3

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

Remapped(Score: Perfect):1,609,132-1,610,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097816	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	1,609,132	1,610,704
nsv7097816	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	1,609,367	1,610,939

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791955	deletion	Multiple	Multiple	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3	Pathogenic	ClinVar	RCV003107399.2, VCV002424166.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791955	Remapped	Perfect	NC_000006.12:g.(?_ 1609132)_(1610704_ ?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	1,609,132	1,610,704
nssv18791955	Submitted genomic		NC_000006.11:g.(?_ 1609367)_(1610939_ ?)del	GRCh37 (hg19)		NC_000006.11	Chr6	1,609,367	1,610,939

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
nssv18791955	GRCh37: NC_000006.11:g.(?_1609367)_(1610939_?)del	deletion	germline	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3	Pathogenic	ClinVar	RCV003107399.2, VCV002424166.2

No genotype data were submitted for this variant

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