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dbVar

Database of genomic structural variation

nsv4674329

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:710,877

Description:Single allele AND Dystonic disorder
Publication(s):Klein et al. 2003, Turro et al. 2020

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: 2768 SVs from 102 studies. See in: genome view

Remapped(Score: Perfect):35,062,521-35,773,397

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4674329	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	35,062,521	35,773,397
nsv4674329	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	35,553,425	36,264,299

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16207652	deletion	Multiple	Multiple	Dystonia; Dystonia; Dystonia	Pathogenic	ClinVar	RCV001003865.1, VCV000812929.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16207652	Remapped	Perfect	NC_000019.10:g.350 62521_35773397del	GRCh38.p12	First Pass	NC_000019.10	Chr19	35,062,521	35,773,397
nssv16207652	Submitted genomic		NC_000019.9:g.3555 3425_36264299del	GRCh37 (hg19)		NC_000019.9	Chr19	35,553,425	36,264,299

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
nssv16207652	GRCh37: NC_000019.9:g.35553425_36264299del	deletion	unknown	Dystonia; Dystonia; Dystonia	Pathogenic	ClinVar	RCV001003865.1, VCV000812929.1

No genotype data were submitted for this variant

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