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dbVar

Database of genomic structural variation

nsv5381181

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:799,638

Description:NC_000017.10:g.(?_6328780)_(7128416_?)dup AND Developmental and epileptic encephalopathy, 25

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: 2611 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):6,425,460-7,225,097

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381181	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	6,425,460	7,225,097
nsv5381181	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	6,328,780	7,128,416

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866816	duplication	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25; Epileptic encephalopathy, early infantile, 25; Undetermined early onset epileptic encephalopathy	Uncertain significance	ClinVar	RCV001320321.1, VCV001020704.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866816	Remapped	Perfect	NC_000017.11:g.(?_ 6425460)_(7225097_ ?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	6,425,460	7,225,097
nssv16866816	Submitted genomic		NC_000017.10:g.(?_ 6328780)_(7128416_ ?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	6,328,780	7,128,416

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
nssv16866816	GRCh37: NC_000017.10:g.(?_6328780)_(7128416_?)dup	duplication	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25; Epileptic encephalopathy, early infantile, 25; Undetermined early onset epileptic encephalopathy	Uncertain significance	ClinVar	RCV001320321.1, VCV001020704.1

No genotype data were submitted for this variant

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