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dbVar

Database of genomic structural variation

nsv5564322

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:358,020

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: 1514 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):43,418,250-43,776,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564322	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	43,418,250	43,776,269
nsv5564322	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	44,838,130	45,196,150

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059494	duplication	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30	Uncertain significance	ClinVar	RCV001365199.1, VCV001055976.1
nssv17059543	duplication	Multiple	Multiple	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Uncertain significance	ClinVar	RCV001364734.1, VCV001055976.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059494	Remapped	Perfect	NC_000021.9:g.(?_4 3418250)_(43776269 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,418,250	43,776,269
nssv17059543	Remapped	Perfect	NC_000021.9:g.(?_4 3418250)_(43776269 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,418,250	43,776,269
nssv17059494	Submitted genomic		NC_000021.8:g.(?_4 4838130)_(45196150 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	44,838,130	45,196,150
nssv17059543	Submitted genomic		NC_000021.8:g.(?_4 4838130)_(45196150 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	44,838,130	45,196,150

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
nssv17059494	GRCh37: NC_000021.8:g.(?_44838130)_(45196150_?)dup	duplication	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30	Uncertain significance	ClinVar	RCV001365199.1, VCV001055976.1
nssv17059543	GRCh37: NC_000021.8:g.(?_44838130)_(45196150_?)dup	duplication	germline	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Uncertain significance	ClinVar	RCV001364734.1, VCV001055976.1

No genotype data were submitted for this variant

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