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dbVar

Database of genomic structural variation

nsv7093916

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:264,973

Description:NC_000011.9:g.(?_111657121)_(111922093_?)del AND ALG9 congenital disorder of glycosylation
Publication(s):Sparks et al. 2005

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: 612 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):111,786,397-112,051,369

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	111,786,397	112,051,369
nsv7093916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	111,657,121	111,922,093

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787705	deletion	Multiple	Multiple	ALG9 congenital disorder of glycosylation; ALG9-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003122711.2, VCV002426878.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787705	Remapped	Perfect	NC_000011.10:g.(?_ 111786397)_(112051 369_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	111,786,397	112,051,369
nssv18787705	Submitted genomic		NC_000011.9:g.(?_1 11657121)_(1119220 93_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	111,657,121	111,922,093

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
nssv18787705	GRCh37: NC_000011.9:g.(?_111657121)_(111922093_?)del	deletion	germline	ALG9 congenital disorder of glycosylation; ALG9-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003122711.2, VCV002426878.2

No genotype data were submitted for this variant

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