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dbVar

Database of genomic structural variation

nsv4681697

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:48,255

Description:
See descriptions for individual calls in download files
Publication(s):Hampel et al. 2014, Kalia et al. 2016, Larsen Haidle et al. 2003, Miller et al. 2021, Miller et al. 2022, No authors et al. 2020, No authors et al. 2021, Syngal et al. 2015, 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: 264 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):51,030,213-51,078,467

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681697	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	51,030,213	51,078,467
nsv4681697	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	48,556,583	48,604,837

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212038	deletion	Multiple	Multiple	Generalized juvenile polyposis/juvenile polyposis coli; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile Polyposis Syndrome	Pathogenic	ClinVar	RCV001032117.6, VCV000831568.5
nssv16866421	duplication	Multiple	Multiple	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Uncertain significance	ClinVar	RCV001308944.2, VCV001011182.2
nssv17173168	duplication	Multiple	Multiple	Generalized juvenile polyposis/juvenile polyposis coli; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile Polyposis Syndrome	Uncertain significance	ClinVar	RCV001032219.1, VCV001011182.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212038	Remapped	Perfect	NC_000018.10:g.(?_ 51030213)_(5107846 7_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	51,030,213	51,078,467
nssv16866421	Remapped	Perfect	NC_000018.10:g.(?_ 51030213)_(5107846 7_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	51,030,213	51,078,467
nssv17173168	Remapped	Perfect	NC_000018.10:g.(?_ 51030213)_(5107846 7_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	51,030,213	51,078,467
nssv16212038	Submitted genomic		NC_000018.9:g.(?_4 8556583)_(48604837 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	48,556,583	48,604,837
nssv16866421	Submitted genomic		NC_000018.9:g.(?_4 8556583)_(48604837 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	48,556,583	48,604,837
nssv17173168	Submitted genomic		NC_000018.9:g.(?_4 8556583)_(48604837 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	48,556,583	48,604,837

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
nssv16212038	GRCh37: NC_000018.9:g.(?_48556583)_(48604837_?)del	deletion	germline	Generalized juvenile polyposis/juvenile polyposis coli; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile Polyposis Syndrome	Pathogenic	ClinVar	RCV001032117.6, VCV000831568.5
nssv16866421	GRCh37: NC_000018.9:g.(?_48556583)_(48604837_?)dup	duplication	germline	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Uncertain significance	ClinVar	RCV001308944.2, VCV001011182.2
nssv17173168	GRCh37: NC_000018.9:g.(?_48556583)_(48604837_?)dup	duplication	germline	Generalized juvenile polyposis/juvenile polyposis coli; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile Polyposis Syndrome	Uncertain significance	ClinVar	RCV001032219.1, VCV001011182.2

No genotype data were submitted for this variant

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