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dbVar

Database of genomic structural variation

nsv5380762

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:1,043,394

Description:NC_000015.9:g.(?_44855319)_(45898712_?)dup AND Arginine:glycine amidinotransferase deficiency
Publication(s):Mercimek-Mahmutoglu et al. 2009

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: 2792 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):44,563,121-45,606,514

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380762	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	44,563,121	45,606,514
nsv5380762	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	44,855,319	45,898,712

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866242	duplication	Multiple	Multiple	Arginine:glycine amidinotransferase deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3; Creatine Deficiency Syndromes; L-Arginine:glycine amidinotransferase deficiency	Uncertain significance	ClinVar	RCV001304383.1, VCV001007236.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866242	Remapped	Perfect	NC_000015.10:g.(?_ 44563121)_(4560651 4_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	44,563,121	45,606,514
nssv16866242	Submitted genomic		NC_000015.9:g.(?_4 4855319)_(45898712 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	44,855,319	45,898,712

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
nssv16866242	GRCh37: NC_000015.9:g.(?_44855319)_(45898712_?)dup	duplication	germline	Arginine:glycine amidinotransferase deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3; Creatine Deficiency Syndromes; L-Arginine:glycine amidinotransferase deficiency	Uncertain significance	ClinVar	RCV001304383.1, VCV001007236.1

No genotype data were submitted for this variant

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