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dbVar

Database of genomic structural variation

nsv6310462

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:859,605

Description:
See descriptions for individual calls in download files
Publication(s):Bird et al. 1998, Gasser et al. 2009, Larson et al. 2019

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 2617 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):12,646,620-13,506,224

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310462	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	12,646,620	13,506,224
nsv6310462	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	12,757,434	13,617,038

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970870	deletion	Multiple	Multiple	GLUTARIC ACIDEMIA I; GA1; Glutaric Acidemia Type 1; Glutaric aciduria, type 1; Glutaryl-CoA dehydrogenase deficiency	Pathogenic	ClinVar	RCV001947065.3, VCV001457169.5
nssv17971374	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42; EPISODIC ATAXIA, TYPE 2; EA2; Epileptic encephalopathy, early infantile, 42; Episodic ataxia type 2; Familial paroxysmal ataxia	Pathogenic	ClinVar	RCV001953618.3, VCV001457169.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970870	Remapped	Perfect	NC_000019.10:g.(?_ 12646620)_(1350622 4_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,646,620	13,506,224
nssv17971374	Remapped	Perfect	NC_000019.10:g.(?_ 12646620)_(1350622 4_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,646,620	13,506,224
nssv17970870	Submitted genomic		NC_000019.9:g.(?_1 2757434)_(13617038 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	12,757,434	13,617,038
nssv17971374	Submitted genomic		NC_000019.9:g.(?_1 2757434)_(13617038 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	12,757,434	13,617,038

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
nssv17970870	GRCh37: NC_000019.9:g.(?_12757434)_(13617038_?)del	deletion	germline	GLUTARIC ACIDEMIA I; GA1; Glutaric Acidemia Type 1; Glutaric aciduria, type 1; Glutaryl-CoA dehydrogenase deficiency	Pathogenic	ClinVar	RCV001947065.3, VCV001457169.5
nssv17971374	GRCh37: NC_000019.9:g.(?_12757434)_(13617038_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42; EPISODIC ATAXIA, TYPE 2; EA2; Epileptic encephalopathy, early infantile, 42; Episodic ataxia type 2; Familial paroxysmal ataxia	Pathogenic	ClinVar	RCV001953618.3, VCV001457169.5

No genotype data were submitted for this variant

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