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dbVar

Database of genomic structural variation

nsv5381313

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:2,770,312

Description:Single allele AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 9917 SVs from 131 studies. See in: genome view

Remapped(Score: Pass):18,339,130-21,109,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5381313	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	18,339,130	21,109,441
nsv5381313	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,889,490	21,463,730

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16865881	deletion	Multiple	Multiple	Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders	Pathogenic	ClinVar	RCV001293366.2, VCV000997809.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16865881	Remapped	Pass	NC_000022.11:g.183 39130_21109441del	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,339,130	21,109,441
nssv16865881	Submitted genomic		NC_000022.10:g.188 89490_21463730del	GRCh37 (hg19)		NC_000022.10	Chr22	18,889,490	21,463,730

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
nssv16865881	GRCh37: NC_000022.10:g.18889490_21463730del	deletion	de novo	Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders	Pathogenic	ClinVar	RCV001293366.2, VCV000997809.1	1

No genotype data were submitted for this variant

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