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dbVar

Database of genomic structural variation

nsv7093261

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:31,623

Description:Single allele AND Developmental and epileptic encephalopathy, 28

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: 305 SVs from 50 studies. See in: genome view

Submitted genomic78,375,608-78,407,230

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7093261	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	78,375,608	78,407,230
nsv7093261	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	78,409,505	78,441,127

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786312	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV002509908.1, VCV001810421.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18786312	Submitted genomic		NC_000016.10:g.783 75608_78407230del	GRCh38 (hg38)		NC_000016.10	Chr16	78,375,608	78,407,230
nssv18786312	Remapped	Perfect	NC_000016.9:g.7840 9505_78441127del	GRCh37.p13	First Pass	NC_000016.9	Chr16	78,409,505	78,441,127

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
nssv18786312	GRCh38: NC_000016.10:g.78375608_78407230del	deletion	paternal	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV002509908.1, VCV001810421.1

No genotype data were submitted for this variant

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