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dbVar

Database of genomic structural variation

nsv4681865

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:560,631

Description:NC_000020.11:g.(?_48921870)_(49482500_?)del AND Developmental and epileptic encephalopathy, 26

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: 1778 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):48,921,870-49,482,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681865	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	48,921,870	49,482,500
nsv4681865	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	47,538,407	48,099,037

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211863	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26; Epileptic encephalopathy, early infantile, 26; Undetermined early onset epileptic encephalopathy	Uncertain significance	ClinVar	RCV001031370.4, VCV000830763.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211863	Remapped	Perfect	NC_000020.11:g.(?_ 48921870)_(4948250 0_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,921,870	49,482,500
nssv16211863	Submitted genomic		NC_000020.10:g.(?_ 47538407)_(4809903 7_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	47,538,407	48,099,037

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
nssv16211863	GRCh37: NC_000020.10:g.(?_47538407)_(48099037_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26; Epileptic encephalopathy, early infantile, 26; Undetermined early onset epileptic encephalopathy	Uncertain significance	ClinVar	RCV001031370.4, VCV000830763.5

No genotype data were submitted for this variant

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