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dbVar

Database of genomic structural variation

nsv7095531

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:2,405,740

Description:NC_000001.10:g.(?_44257753)_(46663493_?)dup AND Early infantile epileptic encephalopathy with suppression bursts

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: 7068 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):43,792,082-46,197,821

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095531	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	43,792,082	46,197,821
nsv7095531	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	44,257,753	46,663,493

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788530	duplication	Multiple	Multiple	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Uncertain significance	ClinVar	RCV003109481.1, VCV002425557.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788530	Remapped	Perfect	NC_000001.11:g.(?_ 43792082)_(4619782 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	43,792,082	46,197,821
nssv18788530	Submitted genomic		NC_000001.10:g.(?_ 44257753)_(4666349 3_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	44,257,753	46,663,493

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
nssv18788530	GRCh37: NC_000001.10:g.(?_44257753)_(46663493_?)dup	duplication	germline	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Uncertain significance	ClinVar	RCV003109481.1, VCV002425557.2

No genotype data were submitted for this variant

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