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dbVar

Database of genomic structural variation

nsv7097252

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:170,772

Description:NC_000004.11:g.(?_493125)_(663896_?)del 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: 1041 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):499,336-670,107

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097252	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	499,336	670,107
nsv7097252	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	493,125	663,896

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791542	deletion	Multiple	Multiple	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53; Mental retardation, autosomal recessive 53; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003105439.2, VCV002423747.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791542	Remapped	Perfect	NC_000004.12:g.(?_ 499336)_(670107_?) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	499,336	670,107
nssv18791542	Submitted genomic		NC_000004.11:g.(?_ 493125)_(663896_?) del	GRCh37 (hg19)		NC_000004.11	Chr4	493,125	663,896

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
nssv18791542	GRCh37: NC_000004.11:g.(?_493125)_(663896_?)del	deletion	germline	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53; Mental retardation, autosomal recessive 53; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003105439.2, VCV002423747.4

No genotype data were submitted for this variant

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