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dbVar

Database of genomic structural variation

nsv4769253

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:85,218

Description:NC_000023.11:g.18419574_18504791del AND Developmental and epileptic encephalopathy, 2

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: 216 SVs from 32 studies. See in: genome view

Submitted genomic18,419,574-18,504,791

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4769253	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	18,419,574	18,504,791
nsv4769253	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	18,437,694	18,522,911

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16297036	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome	Pathogenic	ClinVar	RCV001270626.2, VCV000988898.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16297036	Submitted genomic		NC_000023.11:g.184 19574_18504791del	GRCh38 (hg38)		NC_000023.11	ChrX	18,419,574	18,504,791
nssv16297036	Remapped	Perfect	NC_000023.10:g.184 37694_18522911del	GRCh37.p13	First Pass	NC_000023.10	ChrX	18,437,694	18,522,911

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
nssv16297036	GRCh38: NC_000023.11:g.18419574_18504791del	deletion	de novo	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome	Pathogenic	ClinVar	RCV001270626.2, VCV000988898.2

No genotype data were submitted for this variant

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