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dbVar

Database of genomic structural variation

nsv4682849

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:278,246

Description:NC_000006.12:g.(?_33173681)_(33451926_?)dup AND Intellectual disability, autosomal dominant 5
Publication(s):Holder et al. 2019

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: 724 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):33,173,681-33,451,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682849	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	33,173,681	33,451,926
nsv4682849	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	33,141,458	33,419,703

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213858	duplication	Multiple	Multiple	MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5; Mental retardation, autosomal dominant 5; SYNGAP1-Related Intellectual Disability; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001032258.1, VCV000831717.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213858	Remapped	Perfect	NC_000006.12:g.(?_ 33173681)_(3345192 6_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	33,173,681	33,451,926
nssv16213858	Submitted genomic		NC_000006.11:g.(?_ 33141458)_(3341970 3_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	33,141,458	33,419,703

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
nssv16213858	GRCh37: NC_000006.11:g.(?_33141458)_(33419703_?)dup	duplication	germline	MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5; Mental retardation, autosomal dominant 5; SYNGAP1-Related Intellectual Disability; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001032258.1, VCV000831717.1

No genotype data were submitted for this variant

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