Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv491539

Organism: Homo sapiens

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

Variant Calls:0
Validation:Not tested
Clinical Assertions: No
Region Size:1,744,097

Description:
22q11.2 recurrent region (distal type I, D-E/F)
Publication(s):Ben-Shachar et al. 2008, Coppinger et al. 2009, Mikhail et al. 2013, Ou et al. 2008, Riggs et al. 2011, Tan et al. 2011, Wincent 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: 8345 SVs from 115 studies. See in: genome view

Remapped(Score: Good):21,562,828-23,306,924

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491539	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	21,562,828	23,306,924
nsv491539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	21,917,117	23,649,111

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184574	copy number loss	Curated	Curated	CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv4004222	copy number gain	Curated	Curated		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
nssv1184574	Remapped	Good	NC_000022.11:g.(?_ 21562828)_(2330692 4_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	21,562,828	23,306,924
nssv4004222	Remapped	Good	NC_000022.11:g.(?_ 21562828)_(2330692 4_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	21,562,828	23,306,924
nssv1184574	Submitted genomic		NC_000022.10:g.(?_ 21917117)_(2364911 1_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	21,917,117	23,649,111
nssv4004222	Submitted genomic		NC_000022.10:g.(?_ 21917117)_(2364911 1_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	21,917,117	23,649,111

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184574	GRCh37: NC_000022.10:g.(?_21917117)_(23649111_?)del	copy number loss	CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv4004222	GRCh37: NC_000022.10:g.(?_21917117)_(23649111_?)dup	copy number gain		Pathogenic	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

You are here: NCBI