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dbVar

Database of genomic structural variation

nsv3876238

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:536,253

Description:NC_000007.14:g.(69899499_70118132)_(70134571_7
0435751)del AND Autism spectrum disorder due to AUTS2 deficiency
Publication(s):Beunders 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: 1253 SVs from 67 studies. See in: genome view

Submitted genomic69,899,499-70,435,751

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3876238	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	69,899,499	70,118,132	70,134,571	70,435,751
nsv3876238	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	69,364,485	69,583,118	69,599,557	69,900,737

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15119417	deletion	Multiple	Multiple	Autism spectrum disorder due to AUTS2 deficiency; MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26; Mental retardation, autosomal dominant 26; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000119843.3, VCV000133343.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15119417	Submitted genomic		NC_000007.14:g.(69 899499_70118132)_( 70134571_70435751) del	GRCh38 (hg38)		NC_000007.14	Chr7	69,899,499	70,118,132	70,134,571	70,435,751
nssv15119417	Remapped	Perfect	NC_000007.13:g.(69 364485_69583118)_( 69599557_69900737) del	GRCh37.p13	First Pass	NC_000007.13	Chr7	69,364,485	69,583,118	69,599,557	69,900,737

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
nssv15119417	GRCh38: NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del	deletion	germline	Autism spectrum disorder due to AUTS2 deficiency; MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26; Mental retardation, autosomal dominant 26; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000119843.3, VCV000133343.2

No genotype data were submitted for this variant

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