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dbVar

Database of genomic structural variation

nsv7096096

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,593,951

Description:
See descriptions for individual calls in download files

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: 21535 SVs from 119 studies. See in: genome view

Remapped(Score: Good):41,740,838-46,334,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096096	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	41,740,838	46,334,788
nsv7096096	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	43,160,998	47,754,702

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791172	deletion	Multiple	Multiple	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Pathogenic	ClinVar	RCV003119311.2, VCV002422361.5
nssv18791173	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30	Uncertain significance	ClinVar	RCV003119312.1, VCV002422361.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791172	Remapped	Good	NC_000021.9:g.(?_4 1740838)_(46334788 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	41,740,838	46,334,788
nssv18791173	Remapped	Good	NC_000021.9:g.(?_4 1740838)_(46334788 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	41,740,838	46,334,788
nssv18791172	Submitted genomic		NC_000021.8:g.(?_4 3160998)_(47754702 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	43,160,998	47,754,702
nssv18791173	Submitted genomic		NC_000021.8:g.(?_4 3160998)_(47754702 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	43,160,998	47,754,702

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791172	GRCh37: NC_000021.8:g.(?_43160998)_(47754702_?)del	deletion	germline	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Pathogenic	ClinVar	RCV003119311.2, VCV002422361.5
nssv18791173	GRCh37: NC_000021.8:g.(?_43160998)_(47754702_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30	Uncertain significance	ClinVar	RCV003119312.1, VCV002422361.5

No genotype data were submitted for this variant

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