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dbVar

Database of genomic structural variation

nsv7095154

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:250

Description:NC_000017.10:g.(?_41052894)_(41053143_?)dup AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Publication(s):Bali et al. 2006, Kishnani et al. 2014

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: 124 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):42,900,877-42,901,126

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095154	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	42,900,877	42,901,126
nsv7095154	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	41,052,894	41,053,143

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791278	duplication	Multiple	Multiple	GLYCOGEN STORAGE DISEASE Ia; GSD1A; Glycogen Storage Disease Type I; Glycogen storage disease due to glucose-6-phosphatase deficiency; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia; Glycogen storage disease type 1A	Uncertain significance	ClinVar	RCV003119423.2, VCV002422471.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791278	Remapped	Perfect	NC_000017.11:g.(?_ 42900877)_(4290112 6_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	42,900,877	42,901,126
nssv18791278	Submitted genomic		NC_000017.10:g.(?_ 41052894)_(4105314 3_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	41,052,894	41,053,143

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
nssv18791278	GRCh37: NC_000017.10:g.(?_41052894)_(41053143_?)dup	duplication	germline	GLYCOGEN STORAGE DISEASE Ia; GSD1A; Glycogen Storage Disease Type I; Glycogen storage disease due to glucose-6-phosphatase deficiency; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia; Glycogen storage disease type 1A	Uncertain significance	ClinVar	RCV003119423.2, VCV002422471.2

No genotype data were submitted for this variant

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