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dbVar

Database of genomic structural variation

nsv7148188

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:5,595,062

Description:GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 AND Intellectual disability, autosomal dominant 20

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: 10763 SVs from 107 studies. See in: genome view

Submitted genomic88,189,536-93,784,597

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148188	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	88,189,536	93,784,597
nsv7148188	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	87,485,353	93,120,303

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841850	copy number loss	Multiple	Multiple	5q14.3 microdeletion syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003327617.2, VCV002579178.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841850	Submitted genomic		NC_000005.10:g.881 89536_93784597del	GRCh38 (hg38)		NC_000005.10	Chr5	88,189,536	93,784,597
nssv18841850	Remapped	Good	NC_000005.9:g.8748 5353_93120303del	GRCh37.p13	First Pass	NC_000005.9	Chr5	87,485,353	93,120,303

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	Copy number
nssv18841850	GRCh38: NC_000005.10:g.88189536_93784597del	copy number loss	de novo	5q14.3 microdeletion syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003327617.2, VCV002579178.1	1

No genotype data were submitted for this variant

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