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dbVar

Database of genomic structural variation

nsv6314752

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:1,753,302

Description:GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4 AND Cat eye syndrome

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: 6628 SVs from 120 studies. See in: genome view

Remapped(Score: Good):16,408,173-18,161,474

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6314752	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	16,408,173	18,161,474
nsv6314752	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	16,888,899	18,644,241

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976064	copy number gain	Multiple	Multiple	CAT EYE SYNDROME; CES; Cat eye syndrome; Cat-eye syndrome	Pathogenic	ClinVar	RCV002221456.2, VCV001676305.2	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17976064	Remapped	Good	NC_000022.11:g.(16 408173_?)_(?_18161 474)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	16,408,173	18,161,474
nssv17976064	Submitted genomic		NC_000022.10:g.(16 888899_?)_(?_18644 241)dup	GRCh37 (hg19)		NC_000022.10	Chr22	16,888,899	18,644,241

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
nssv17976064	GRCh37: NC_000022.10:g.(16888899_?)_(?_18644241)dup	copy number gain	de novo	CAT EYE SYNDROME; CES; Cat eye syndrome; Cat-eye syndrome	Pathogenic	ClinVar	RCV002221456.2, VCV001676305.2	4

No genotype data were submitted for this variant

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