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dbVar

Database of genomic structural variation

nsv5673185

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:2,877,609

Description:Single allele AND DiGeorge syndrome
Publication(s):Fokstuen et al. 2001, Fung et al. 2015, Gregg et al. 2016, McDonald-McGinn et al. 1999

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: 10241 SVs from 132 studies. See in: genome view

Remapped(Score: Pass):18,339,130-21,216,738

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5673185	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	18,339,130	21,216,738
nsv5673185	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,893,882	21,571,027

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17173202	deletion	Multiple	Multiple	22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence	Pathogenic	ClinVar	RCV001391672.1, VCV001077187.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17173202	Remapped	Pass	NC_000022.11:g.183 39130_21216738del	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,339,130	21,216,738
nssv17173202	Submitted genomic		NC_000022.10:g.188 93882_21571027del	GRCh37 (hg19)		NC_000022.10	Chr22	18,893,882	21,571,027

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
nssv17173202	GRCh37: NC_000022.10:g.18893882_21571027del	deletion	de novo	22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence	Pathogenic	ClinVar	RCV001391672.1, VCV001077187.1	1

No genotype data were submitted for this variant

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