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dbVar

Database of genomic structural variation

nsv6315179

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:12,796,609

Description:GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 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: 30428 SVs from 125 studies. See in: genome view

Remapped(Score: Perfect):91,102,692-103,899,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315179	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	91,102,692	103,899,300
nsv6315179	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	93,864,974	106,661,581

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976658	copy number loss	Multiple	Multiple	BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV002279743.1, VCV001341973.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976658	Remapped	Perfect	NC_000009.12:g.(?_ 91102692)_(1038993 00_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	91,102,692	103,899,300
nssv17976658	Submitted genomic		NC_000009.11:g.(?_ 93864974)_(1066615 81_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	93,864,974	106,661,581

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
nssv17976658	GRCh37: NC_000009.11:g.(?_93864974)_(106661581_?)del	copy number loss	germline	BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV002279743.1, VCV001341973.1	1

No genotype data were submitted for this variant

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