Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4682183

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:791,444

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: 2993 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):43,418,240-44,209,683

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682183	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	43,418,240	44,209,683
nsv4682183	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	44,838,120	45,629,566

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211808	deletion	Multiple	Multiple	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Pathogenic	ClinVar	RCV001031044.1, VCV000830406.1
nssv16212190	duplication	Multiple	Multiple	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Uncertain significance	ClinVar	RCV001032749.2, VCV000832239.6
nssv18790966	duplication	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30	Uncertain significance	ClinVar	RCV003117708.2, VCV000832239.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211808	Remapped	Perfect	NC_000021.9:g.(?_4 3418240)_(44209683 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,418,240	44,209,683
nssv16212190	Remapped	Perfect	NC_000021.9:g.(?_4 3418240)_(44209683 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,418,240	44,209,683
nssv18790966	Remapped	Perfect	NC_000021.9:g.(?_4 3418240)_(44209683 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,418,240	44,209,683
nssv16211808	Submitted genomic		NC_000021.8:g.(?_4 4838120)_(45629566 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	44,838,120	45,629,566
nssv16212190	Submitted genomic		NC_000021.8:g.(?_4 4838120)_(45629566 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	44,838,120	45,629,566
nssv18790966	Submitted genomic		NC_000021.8:g.(?_4 4838120)_(45629566 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	44,838,120	45,629,566

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
nssv16211808	GRCh37: NC_000021.8:g.(?_44838120)_(45629566_?)del	deletion	germline	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Pathogenic	ClinVar	RCV001031044.1, VCV000830406.1
nssv16212190	GRCh37: NC_000021.8:g.(?_44838120)_(45629566_?)dup	duplication	germline	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Uncertain significance	ClinVar	RCV001032749.2, VCV000832239.6
nssv18790966	GRCh37: NC_000021.8:g.(?_44838120)_(45629566_?)dup	duplication	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30	Uncertain significance	ClinVar	RCV003117708.2, VCV000832239.6

No genotype data were submitted for this variant

You are here: NCBI