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dbVar

Database of genomic structural variation

nsv6310620

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:189,133

Description:NC_000019.9:g.(?_13427906)_(13617038_?)del AND multiple conditions
Publication(s):Bird et al. 1998, Gasser 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: 573 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):13,317,092-13,506,224

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310620	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	13,317,092	13,506,224
nsv6310620	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	13,427,906	13,617,038

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970758	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	RCV001944498.3, VCV001366064.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970758	Remapped	Perfect	NC_000019.10:g.(?_ 13317092)_(1350622 4_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	13,317,092	13,506,224
nssv17970758	Submitted genomic		NC_000019.9:g.(?_1 3427906)_(13617038 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	13,427,906	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
nssv17970758	GRCh37: NC_000019.9:g.(?_13427906)_(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	RCV001944498.3, VCV001366064.4

No genotype data were submitted for this variant

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