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dbVar

Database of genomic structural variation

nsv4768382

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:169,184

Description:GRCh37/hg19 20p13(chr20:378136-547319)x1 AND Okur-Chung neurodevelopmental syndrome
Publication(s):Chung et al. 2022

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: 686 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):397,492-566,675

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4768382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	397,492	566,675
nsv4768382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	378,136	547,319

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16296985	copy number loss	Multiple	Multiple	OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS; Okur-Chung Neurodevelopmental Syndrome; Okur-chung neurodevelopmental syndrome	Likely pathogenic	ClinVar	RCV001265137.1, VCV000984755.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16296985	Remapped	Perfect	NC_000020.11:g.(?_ 397492)_(566675_?) del	GRCh38.p12	First Pass	NC_000020.11	Chr20	397,492	566,675
nssv16296985	Submitted genomic		NC_000020.10:g.(?_ 378136)_(547319_?) del	GRCh37 (hg19)		NC_000020.10	Chr20	378,136	547,319

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
nssv16296985	GRCh37: NC_000020.10:g.(?_378136)_(547319_?)del	copy number loss	de novo	OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS; Okur-Chung Neurodevelopmental Syndrome; Okur-chung neurodevelopmental syndrome	Likely pathogenic	ClinVar	RCV001265137.1, VCV000984755.1	1

No genotype data were submitted for this variant

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