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dbVar

Database of genomic structural variation

nsv5673004

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:38,216

Description:NC_000016.9:g.(?_78420747)_(78458962_?)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: 307 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):78,386,850-78,425,065

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673004	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,386,850	78,425,065
nsv5673004	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	78,420,747	78,458,962

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171930	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	RCV001390384.1, VCV001076469.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171930	Remapped	Perfect	NC_000016.10:g.(?_ 78386850)_(7842506 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,386,850	78,425,065
nssv17171930	Submitted genomic		NC_000016.9:g.(?_7 8420747)_(78458962 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	78,420,747	78,458,962

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
nssv17171930	GRCh37: NC_000016.9:g.(?_78420747)_(78458962_?)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	RCV001390384.1, VCV001076469.1

No genotype data were submitted for this variant

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