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dbVar

Database of genomic structural variation

nsv6311153

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:59,351

Description:NC_000020.10:g.(?_8639165)_(8698515_?)del AND Developmental and epileptic encephalopathy, 12

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: 212 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):8,658,518-8,717,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311153	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	8,658,518	8,717,868
nsv6311153	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	8,639,165	8,698,515

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970840	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12; Early infantile epileptic encephalopathy 12	Pathogenic	ClinVar	RCV001946888.5, VCV001456484.7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970840	Remapped	Perfect	NC_000020.11:g.(?_ 8658518)_(8717868_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	8,658,518	8,717,868
nssv17970840	Submitted genomic		NC_000020.10:g.(?_ 8639165)_(8698515_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	8,639,165	8,698,515

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
nssv17970840	GRCh37: NC_000020.10:g.(?_8639165)_(8698515_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12; Early infantile epileptic encephalopathy 12	Pathogenic	ClinVar	RCV001946888.5, VCV001456484.7

No genotype data were submitted for this variant

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