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dbVar

Database of genomic structural variation

nsv4730042

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:82

Description:NC_000001.10:g.57832716_57832797ins[(ATTTT)60-
79(ATTTC)31-75(ATTTT)58-90] AND Spinocerebellar ataxia type 37
Publication(s):Corral-Juan et al. 2018, Matilla-Dueñas et al. 2019, Seixas et al. 2017, Serrano-Munuera et al. 2013

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: 118 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):57,367,044-57,367,125

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4730042	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	57,367,044	57,367,125
nsv4730042	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	57,832,716	57,832,797

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15150585	insertion	Multiple	Multiple	SPINOCEREBELLAR ATAXIA 37; SCA37; Spinocerebellar Ataxia Type 37; Spinocerebellar ataxia 37; Spinocerebellar ataxia type 37	Pathogenic	ClinVar	RCV000495133.4, VCV000430691.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15150585	Remapped	Perfect	NC_000001.11:g.573 67044_57367125ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	57,367,044	57,367,125
nssv15150585	Submitted genomic		NC_000001.10:g.578 32716_57832797ins?	GRCh37 (hg19)		NC_000001.10	Chr1	57,832,716	57,832,797

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
nssv15150585	GRCh37: NC_000001.10:g.57832716_57832797ins?	insertion	see ClinVar for details	SPINOCEREBELLAR ATAXIA 37; SCA37; Spinocerebellar Ataxia Type 37; Spinocerebellar ataxia 37; Spinocerebellar ataxia type 37	Pathogenic	ClinVar	RCV000495133.4, VCV000430691.4

No genotype data were submitted for this variant

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