Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4682851

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:10,930

Description:NC_000001.11:g.(?_110593873)_(110604802_?)del AND Developmental and epileptic encephalopathy, 32

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: 109 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):110,593,873-110,604,802

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682851	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	110,593,873	110,604,802
nsv4682851	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	111,136,495	111,147,424

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211888	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32; Epileptic encephalopathy, early infantile, 32; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV001031452.1, VCV000830850.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211888	Remapped	Perfect	NC_000001.11:g.(?_ 110593873)_(110604 802_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,593,873	110,604,802
nssv16211888	Submitted genomic		NC_000001.10:g.(?_ 111136495)_(111147 424_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,136,495	111,147,424

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
nssv16211888	GRCh37: NC_000001.10:g.(?_111136495)_(111147424_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32; Epileptic encephalopathy, early infantile, 32; Undetermined early onset epileptic encephalopathy	Pathogenic	ClinVar	RCV001031452.1, VCV000830850.1

No genotype data were submitted for this variant

You are here: NCBI