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dbVar

Database of genomic structural variation

nsv4682252

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:262,411

Description:NC_000011.10:g.(?_532616)_(795026_?)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: 2010 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):532,616-795,026

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682252	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	532,616	795,026
nsv4682252	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187586.1	Chr11\|NT_1 87586.1	62,257	209,248
nsv4682252	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	532,616	795,026

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211795	duplication	Multiple	Multiple	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Uncertain significance	ClinVar	RCV001031133.2, VCV000830507.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211795	Remapped	Pass	NT_187586.1:g.(?_6 2257)_(209248_?)du p	GRCh38.p12	Second Pass	NT_187586.1	Chr11\|NT_1 87586.1	62,257	209,248
nssv16211795	Remapped	Perfect	NC_000011.10:g.(?_ 532616)_(795026_?) dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	532,616	795,026
nssv16211795	Submitted genomic		NC_000011.9:g.(?_5 32616)_(795026_?)d up	GRCh37 (hg19)		NC_000011.9	Chr11	532,616	795,026

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
nssv16211795	GRCh37: NC_000011.9:g.(?_532616)_(795026_?)dup	duplication	germline	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Uncertain significance	ClinVar	RCV001031133.2, VCV000830507.2

No genotype data were submitted for this variant

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