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dbVar

Database of genomic structural variation

nsv6311543

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:104

Description:NC_000002.11:g.(?_166905376)_(166905479_?)del 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: 116 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):166,048,866-166,048,969

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311543	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	166,048,866	166,048,969
nsv6311543	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	166,905,376	166,905,479

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971220	deletion	Multiple	Multiple	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001951456.3, VCV001460153.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971220	Remapped	Perfect	NC_000002.12:g.(?_ 166048866)_(166048 969_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	166,048,866	166,048,969
nssv17971220	Submitted genomic		NC_000002.11:g.(?_ 166905376)_(166905 479_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	166,905,376	166,905,479

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
nssv17971220	GRCh37: NC_000002.11:g.(?_166905376)_(166905479_?)del	deletion	germline	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001951456.3, VCV001460153.3

No genotype data were submitted for this variant

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