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dbVar

Database of genomic structural variation

nsv5381149

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:8,819,503

Description:Single allele AND Intellectual disability
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: 34930 SVs from 125 studies. See in: genome view

Remapped(Score: Good):41,937,798-50,757,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5381149	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	41,937,798	50,757,300
nsv5381149	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,333,802	51,195,728

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16865890	deletion	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001293376.2, VCV000997819.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16865890	Remapped	Good	NC_000022.11:g.419 37798_50757300del	GRCh38.p12	First Pass	NC_000022.11	Chr22	41,937,798	50,757,300
nssv16865890	Submitted genomic		NC_000022.10:g.423 33802_51195728del	GRCh37 (hg19)		NC_000022.10	Chr22	42,333,802	51,195,728

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
nssv16865890	GRCh37: NC_000022.10:g.42333802_51195728del	deletion	unknown	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV001293376.2, VCV000997819.1	1

No genotype data were submitted for this variant

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