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dbVar

Database of genomic structural variation

nsv4716480

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:36,300

Description:NC_000016.10:g.78152047_78188346del 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: 276 SVs from 44 studies. See in: genome view

Submitted genomic78,152,047-78,188,346

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4716480	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	78,152,047	78,188,346
nsv4716480	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	78,185,944	78,222,243

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16252133	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV001255970.2, VCV000978033.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16252133	Submitted genomic		NC_000016.10:g.781 52047_78188346del	GRCh38 (hg38)		NC_000016.10	Chr16	78,152,047	78,188,346
nssv16252133	Remapped	Perfect	NC_000016.9:g.7818 5944_78222243del	GRCh37.p13	First Pass	NC_000016.9	Chr16	78,185,944	78,222,243

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
nssv16252133	GRCh38: NC_000016.10:g.78152047_78188346del	deletion	maternal	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV001255970.2, VCV000978033.2

No genotype data were submitted for this variant

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