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dbVar

Database of genomic structural variation

nsv4683766

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:9,947

Description:NC_000001.11:g.(?_44822405)_(44832351_?)dup AND Gorlin syndrome
Publication(s):Evans et al. 2002, Hampel et al. 2014, Lo Muzio et al. 2011, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Trepanier et al. 2004

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: 141 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):44,822,405-44,832,351

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683766	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	44,822,405	44,832,351
nsv4683766	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	45,288,077	45,298,023

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211955	duplication	Multiple	Multiple	BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001031733.4, VCV000831150.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211955	Remapped	Perfect	NC_000001.11:g.(?_ 44822405)_(4483235 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	44,822,405	44,832,351
nssv16211955	Submitted genomic		NC_000001.10:g.(?_ 45288077)_(4529802 3_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	45,288,077	45,298,023

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
nssv16211955	GRCh37: NC_000001.10:g.(?_45288077)_(45298023_?)dup	duplication	germline	BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001031733.4, VCV000831150.6

No genotype data were submitted for this variant

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