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dbVar

Database of genomic structural variation

nsv6310544

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:846,691

Description:NC_000019.9:g.(?_49519325)_(50366015_?)dup AND Developmental and epileptic encephalopathy, 12

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: 3272 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):49,016,068-49,862,758

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310544	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	49,016,068	49,862,758
nsv6310544	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	49,519,325	50,366,015

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973659	duplication	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12; Early infantile epileptic encephalopathy 12	Uncertain significance	ClinVar	RCV002030046.3, VCV001346497.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973659	Remapped	Perfect	NC_000019.10:g.(?_ 49016068)_(4986275 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,016,068	49,862,758
nssv17973659	Submitted genomic		NC_000019.9:g.(?_4 9519325)_(50366015 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	49,519,325	50,366,015

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
nssv17973659	GRCh37: NC_000019.9:g.(?_49519325)_(50366015_?)dup	duplication	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12; Early infantile epileptic encephalopathy 12	Uncertain significance	ClinVar	RCV002030046.3, VCV001346497.4

No genotype data were submitted for this variant

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