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dbVar

Database of genomic structural variation

nsv4350189

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:22,098

Description:GRCh37/hg19 16q23.1(chr16:78409180-78431277) 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: 264 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):78,375,283-78,397,380

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4350189	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,375,283	78,397,380
nsv4350189	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	78,409,180	78,431,277

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605871	copy number loss	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV000767684.1, VCV000625676.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605871	Remapped	Perfect	NC_000016.10:g.(?_ 78375283)_(7839738 0_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,375,283	78,397,380
nssv15605871	Submitted genomic		NC_000016.9:g.(?_7 8409180)_(78431277 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	78,409,180	78,431,277

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
nssv15605871	GRCh37: NC_000016.9:g.(?_78409180)_(78431277_?)del	copy number loss	biparental	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV000767684.1, VCV000625676.1

No genotype data were submitted for this variant

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