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dbVar

Database of genomic structural variation

nsv3882495

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:498,240

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: 2705 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):78,014,089-78,512,328

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3882495	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,014,089	78,512,328
nsv3882495	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	78,047,986	78,546,225
nsv3882495	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	76,605,487	77,103,726

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123336	duplication	Multiple	Multiple	Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior	association	ClinVar	RCV000225607.1, VCV000236336.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15123336	Remapped	Perfect	NC_000016.10:g.780 14089_78512328dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,014,089	78,512,328
nssv15123336	Remapped	Perfect	NC_000016.9:g.7804 7986_78546225dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	78,047,986	78,546,225
nssv15123336	Submitted genomic		NC_000016.8:g.7660 5487_77103726dup	NCBI36 (hg18)		NC_000016.8	Chr16	76,605,487	77,103,726

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
nssv15123336	NCBI36: NC_000016.8:g.76605487_77103726dup	duplication	paternal	Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior	association	ClinVar	RCV000225607.1, VCV000236336.1

No genotype data were submitted for this variant

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