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dbVar

Database of genomic structural variation

nsv5674258

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2

Description:NM_001122630.2(CDKN1C):c.522_587dup (p.Val184_Pro205dup) AND Beckwith-Wiedemann syndrome
Publication(s):Del Gaudio et al. 2020, Dome et al. 2003, Mussa et al. 2015, Shuman et al. 2000

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: 113 SVs from 31 studies. See in: genome view

Submitted genomic2,884,869-2,884,870

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5674258	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000011.10	Chr11	2,884,869	2,884,870
nsv5674258	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000011.9	Chr11	2,906,099	2,906,100

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17173263	delins	Multiple	Multiple	BECKWITH-WIEDEMANN SYNDROME; BWS; Beckwith-Wiedemann Syndrome; Beckwith-Wiedemann syndrome; Beckwith-Wiedemann syndrome	Likely benign	ClinVar	RCV001413631.5, VCV001093447.5

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17173263	Submitted genomic	NC_000011.10:g.288 4869_2884870delins 66	GRCh38 (hg38)	NC_000011.10	Chr11	2,884,869	2,884,870
nssv17173263	Submitted genomic	NC_000011.9:g.2906 099_2906100delins6 6	GRCh37 (hg19)	NC_000011.9	Chr11	2,906,099	2,906,100

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
nssv17173263	GRCh37: NC_000011.9:g.2906099_2906100delins66, GRCh38: NC_000011.10:g.2884869_2884870delins66	delins	germline	BECKWITH-WIEDEMANN SYNDROME; BWS; Beckwith-Wiedemann Syndrome; Beckwith-Wiedemann syndrome; Beckwith-Wiedemann syndrome	Likely benign	ClinVar	RCV001413631.5, VCV001093447.5

No genotype data were submitted for this variant

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