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dbVar

Database of genomic structural variation

nsv3870545

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:513,143

Description:Single allele AND Autism spectrum disorder
Publication(s):Daly et al. 2014, Leppa et al. 2016, Miller et al. 2010, Schaefer et al. 2013, Shaffer et al. 2005

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: 1788 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):77,592,963-78,106,105

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3870545	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	77,592,963	78,106,105
nsv3870545	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	77,626,860	78,140,002

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123307	duplication	Multiple	Multiple	Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior	association	ClinVar	RCV000225497.1, VCV000236384.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15123307	Remapped	Perfect	NC_000016.10:g.775 92963_78106105dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	77,592,963	78,106,105
nssv15123307	Submitted genomic		NC_000016.9:g.7762 6860_78140002dup	GRCh37 (hg19)		NC_000016.9	Chr16	77,626,860	78,140,002

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
nssv15123307	GRCh37: NC_000016.9:g.77626860_78140002dup	duplication	unknown	Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior	association	ClinVar	RCV000225497.1, VCV000236384.1

No genotype data were submitted for this variant

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