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dbVar

Database of genomic structural variation

nsv5381310

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:4,694,209

Description:NC_000021.8:g.(?_32439271)_(37133458_?)dup AND multiple conditions

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: 12794 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):31,066,952-35,761,160

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381310	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	31,066,952	35,761,160
nsv5381310	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	32,439,271	37,133,458

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867131	duplication	Multiple	Multiple	Atypical juvenile parkinsonism; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53; Epileptic encephalopathy, early infantile, 53; PARKINSON DISEASE 20, EARLY-ONSET; PARK20; Parkinson disease 20, early-onset	Uncertain significance	ClinVar	RCV001338842.1, VCV001035906.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867131	Remapped	Perfect	NC_000021.9:g.(?_3 1066952)_(35761160 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	31,066,952	35,761,160
nssv16867131	Submitted genomic		NC_000021.8:g.(?_3 2439271)_(37133458 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	32,439,271	37,133,458

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
nssv16867131	GRCh37: NC_000021.8:g.(?_32439271)_(37133458_?)dup	duplication	germline	Atypical juvenile parkinsonism; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53; Epileptic encephalopathy, early infantile, 53; PARKINSON DISEASE 20, EARLY-ONSET; PARK20; Parkinson disease 20, early-onset	Uncertain significance	ClinVar	RCV001338842.1, VCV001035906.1

No genotype data were submitted for this variant

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