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dbVar

Database of genomic structural variation

nsv5673005

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:45,913

Description:NC_000016.9:g.(?_78420747)_(78466659_?)del 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: 325 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):78,386,850-78,432,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,386,850	78,432,762
nsv5673005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	78,420,747	78,466,659

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171931	deletion	Multiple	Multiple	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1; Epileptic encephalopathy, early infantile, 1; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12; Spinocerebellar ataxia, autosomal recessive 12	Pathogenic	ClinVar	RCV001390385.1, VCV001076470.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171931	Remapped	Perfect	NC_000016.10:g.(?_ 78386850)_(7843276 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,386,850	78,432,762
nssv17171931	Submitted genomic		NC_000016.9:g.(?_7 8420747)_(78466659 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	78,420,747	78,466,659

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
nssv17171931	GRCh37: NC_000016.9:g.(?_78420747)_(78466659_?)del	deletion	germline	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1; Epileptic encephalopathy, early infantile, 1; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12; Spinocerebellar ataxia, autosomal recessive 12	Pathogenic	ClinVar	RCV001390385.1, VCV001076470.1

No genotype data were submitted for this variant

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