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dbVar

Database of genomic structural variation

nsv5673187

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,658,219

Description:
See descriptions for individual calls in download files
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: 9571 SVs from 127 studies. See in: genome view

Remapped(Score: Pass):18,339,130-20,997,348

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673187	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	18,339,130	20,997,348
nsv5673187	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,900,688	21,351,637

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171460	deletion	Multiple	Multiple	22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence	Pathogenic	ClinVar	RCV001383366.4, VCV001071026.6
nssv17971306	duplication	Multiple	Multiple	22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence	Uncertain significance	ClinVar	RCV001952526.3, VCV001430756.4
nssv17974163	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001871994.1, VCV001071026.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171460	Remapped	Pass	NC_000022.11:g.(?_ 18339130)_(2099734 8_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,339,130	20,997,348
nssv17971306	Remapped	Pass	NC_000022.11:g.(?_ 18339130)_(2099734 8_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,339,130	20,997,348
nssv17974163	Remapped	Pass	NC_000022.11:g.(?_ 18339130)_(2099734 8_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,339,130	20,997,348
nssv17171460	Submitted genomic		NC_000022.10:g.(?_ 18900688)_(2135163 7_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	18,900,688	21,351,637
nssv17971306	Submitted genomic		NC_000022.10:g.(?_ 18900688)_(2135163 7_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	18,900,688	21,351,637
nssv17974163	Submitted genomic		NC_000022.10:g.(?_ 18900688)_(2135163 7_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	18,900,688	21,351,637

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
nssv17171460	GRCh37: NC_000022.10:g.(?_18900688)_(21351637_?)del	deletion	germline	22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence	Pathogenic	ClinVar	RCV001383366.4, VCV001071026.6
nssv17971306	GRCh37: NC_000022.10:g.(?_18900688)_(21351637_?)dup	duplication	germline	22q11.2 Deletion Syndrome; 22q11.2 deletion syndrome; DIGEORGE SYNDROME; DGS; DiGeorge sequence	Uncertain significance	ClinVar	RCV001952526.3, VCV001430756.4
nssv17974163	GRCh37: NC_000022.10:g.(?_18900688)_(21351637_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001871994.1, VCV001071026.6

No genotype data were submitted for this variant

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