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dbVar

Database of genomic structural variation

nsv7096997

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:24,598

Description:NC_000004.11:g.(?_493125)_(517722_?)dup AND Intellectual disability, autosomal recessive 53

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: 221 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):499,336-523,933

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096997	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	499,336	523,933
nsv7096997	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	493,125	517,722

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791539	duplication	Multiple	Multiple	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53; Mental retardation, autosomal recessive 53; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003105436.2, VCV002423744.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791539	Remapped	Perfect	NC_000004.12:g.(?_ 499336)_(523933_?) dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	499,336	523,933
nssv18791539	Submitted genomic		NC_000004.11:g.(?_ 493125)_(517722_?) dup	GRCh37 (hg19)		NC_000004.11	Chr4	493,125	517,722

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
nssv18791539	GRCh37: NC_000004.11:g.(?_493125)_(517722_?)dup	duplication	germline	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53; Mental retardation, autosomal recessive 53; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003105436.2, VCV002423744.2

No genotype data were submitted for this variant

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