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dbVar

Database of genomic structural variation

nsv5674053

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:351,271

Description:NC_000008.10:g.(?_133141509)_(133492779_?)del AND Benign neonatal seizures

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: 798 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):132,129,262-132,480,532

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5674053	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	132,129,262	132,480,532
nsv5674053	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	133,141,509	133,492,779

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172725	deletion	Multiple	Multiple	Benign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatal	Pathogenic	ClinVar	RCV001383837.2, VCV001071385.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172725	Remapped	Perfect	NC_000008.11:g.(?_ 132129262)_(132480 532_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	132,129,262	132,480,532
nssv17172725	Submitted genomic		NC_000008.10:g.(?_ 133141509)_(133492 779_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	133,141,509	133,492,779

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
nssv17172725	GRCh37: NC_000008.10:g.(?_133141509)_(133492779_?)del	deletion	germline	Benign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatal	Pathogenic	ClinVar	RCV001383837.2, VCV001071385.2

No genotype data were submitted for this variant

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