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dbVar

Database of genomic structural variation

nsv491547

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,374,968

Description:22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1)
Publication(s):Burnside et al. 2015, Firth et al. 2009, McDonald-McGinn et al. 1999, McDonald-McGinn et al. 2015, Ou et al. 2008, Portnoï et al. 2009, Riggs et al. 2011

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: 4774 SVs from 108 studies. See in: genome view

Remapped(Score: Good):18,924,718-20,299,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491547	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	18,924,718	20,299,685
nsv491547	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,912,231	20,287,208

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184570	copy number loss	Curated	Curated	DIGEORGE SYNDROME; DGS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184571	copy number gain	Curated	Curated	CHROMOSOME 22q11.2 DUPLICATION SYNDROME	Pathogenic	ClinGen Dosage Sensitivity Map	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1184570	Remapped	Good	NC_000022.11:g.(?_ 18924718)_(2029968 5_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,924,718	20,299,685
nssv1184571	Remapped	Good	NC_000022.11:g.(?_ 18924718)_(2029968 5_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,924,718	20,299,685
nssv1184570	Submitted genomic		NC_000022.10:g.(?_ 18912231)_(2028720 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	18,912,231	20,287,208
nssv1184571	Submitted genomic		NC_000022.10:g.(?_ 18912231)_(2028720 8_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	18,912,231	20,287,208

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184570	GRCh37: NC_000022.10:g.(?_18912231)_(20287208_?)del	copy number loss	DIGEORGE SYNDROME; DGS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184571	GRCh37: NC_000022.10:g.(?_18912231)_(20287208_?)dup	copy number gain	CHROMOSOME 22q11.2 DUPLICATION SYNDROME	Pathogenic	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

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