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dbVar

Database of genomic structural variation

nsv3879891

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:564,615

Description:GRCh37/hg19 4q25(chr4:111528916-111888401)x1 AND Axenfeld-Rieger syndrome type 1

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: 1349 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):110,505,201-111,069,815

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3879891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	110,505,201	110,607,760	110,967,245	111,069,815
nsv3879891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	111,426,357	111,528,916	111,888,401	111,990,971

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15147596	copy number loss	Multiple	Multiple	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1	Pathogenic	ClinVar	RCV000416499.2, VCV000375444.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15147596	Remapped	Perfect	NC_000004.12:g.(11 0505201_110607760) _(110967245_111069 815)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	110,505,201	110,607,760	110,967,245	111,069,815
nssv15147596	Submitted genomic		NC_000004.11:g.(11 1426357_111528916) _(111888401_111990 971)del	GRCh37 (hg19)		NC_000004.11	Chr4	111,426,357	111,528,916	111,888,401	111,990,971

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	Copy number
nssv15147596	GRCh37: NC_000004.11:g.(111426357_111528916)_(111888401_111990971)del	copy number loss	unknown	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1	Pathogenic	ClinVar	RCV000416499.2, VCV000375444.2	1

No genotype data were submitted for this variant

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