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dbVar

Database of genomic structural variation

nsv6634472

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:39,786

Description:NC_000016.9:g.78179358_78219143delins[78185355
_78199419inv] AND Autosomal recessive spinocerebellar ataxia 12

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: 302 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):78,145,461-78,185,246

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6634472	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,145,461	78,185,246
nsv6634472	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	78,179,358	78,219,143

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326309	delins	Multiple	Multiple	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12; Spinocerebellar ataxia, autosomal recessive 12	Pathogenic	ClinVar	RCV002294739.1, VCV001712484.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18326309	Remapped	Perfect	NC_000016.10:g.781 45461_78185246deli ns?	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,145,461	78,185,246
nssv18326309	Submitted genomic		NC_000016.9:g.7817 9358_78219143delin s?	GRCh37 (hg19)		NC_000016.9	Chr16	78,179,358	78,219,143

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
nssv18326309	GRCh37: NC_000016.9:g.78179358_78219143delins?	delins	paternal	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12; Spinocerebellar ataxia, autosomal recessive 12	Pathogenic	ClinVar	RCV002294739.1, VCV001712484.1

No genotype data were submitted for this variant

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