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dbVar

Database of genomic structural variation

nsv5673061

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:222

Description:
See descriptions for individual calls in download files
Publication(s):Larsen Haidle et al. 2003, Miller et al. 2022, No authors et al. 2020, No authors et al. 2021

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: 147 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):51,078,246-51,078,467

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673061	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	51,078,246	51,078,467
nsv5673061	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	48,604,616	48,604,837

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172625	deletion	Multiple	Multiple	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Pathogenic	ClinVar	RCV001382023.5, VCV001070021.5
nssv18790521	duplication	Multiple	Multiple	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Likely benign	ClinVar	RCV003116356.2, VCV002425342.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172625	Remapped	Perfect	NC_000018.10:g.(?_ 51078246)_(5107846 7_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	51,078,246	51,078,467
nssv18790521	Remapped	Perfect	NC_000018.10:g.(?_ 51078246)_(5107846 7_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	51,078,246	51,078,467
nssv17172625	Submitted genomic		NC_000018.9:g.(?_4 8604616)_(48604837 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	48,604,616	48,604,837
nssv18790521	Submitted genomic		NC_000018.9:g.(?_4 8604616)_(48604837 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	48,604,616	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
nssv17172625	GRCh37: NC_000018.9:g.(?_48604616)_(48604837_?)del	deletion	germline	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Pathogenic	ClinVar	RCV001382023.5, VCV001070021.5
nssv18790521	GRCh37: NC_000018.9:g.(?_48604616)_(48604837_?)dup	duplication	germline	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Likely benign	ClinVar	RCV003116356.2, VCV002425342.2

No genotype data were submitted for this variant

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