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dbVar

Database of genomic structural variation

nsv5381446

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:91

Description:NC_000006.11:g.(?_118028088)_(118028178_?)del AND Congenital disorder of glycosylation, type IAA

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: 93 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):117,706,925-117,707,015

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381446	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	117,706,925	117,707,015
nsv5381446	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	118,028,088	118,028,178

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866471	deletion	Multiple	Multiple	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA	Uncertain significance	ClinVar	RCV001309818.6, VCV001011945.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866471	Remapped	Perfect	NC_000006.12:g.(?_ 117706925)_(117707 015_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	117,706,925	117,707,015
nssv16866471	Submitted genomic		NC_000006.11:g.(?_ 118028088)_(118028 178_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	118,028,088	118,028,178

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
nssv16866471	GRCh37: NC_000006.11:g.(?_118028088)_(118028178_?)del	deletion	germline	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA	Uncertain significance	ClinVar	RCV001309818.6, VCV001011945.6

No genotype data were submitted for this variant

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