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dbVar

Database of genomic structural variation

nsv3874939

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:502,166

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: 2728 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):77,927,362-78,429,527

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3874939	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	77,927,362	78,429,527
nsv3874939	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	77,961,259	78,463,424

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123771	duplication	Multiple	Multiple	Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior	association	ClinVar	RCV000225644.1, VCV000236385.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15123771	Remapped	Perfect	NC_000016.10:g.779 27362_78429527dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	77,927,362	78,429,527
nssv15123771	Submitted genomic		NC_000016.9:g.7796 1259_78463424dup	GRCh37 (hg19)		NC_000016.9	Chr16	77,961,259	78,463,424

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
nssv15123771	GRCh37: NC_000016.9:g.77961259_78463424dup	duplication	unknown	Autism Spectrum Disorder; Autism spectrum disorders; Autistic behavior	association	ClinVar	RCV000225644.1, VCV000236385.1

No genotype data were submitted for this variant

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