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dbVar

Database of genomic structural variation

nsv5672610

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:1,042,199

Description:NC_000010.10:g.(?_88683123)_(89725321_?)del AND Juvenile polyposis syndrome
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: 2997 SVs from 101 studies. See in: genome view

Remapped(Score: Perfect):86,923,366-87,965,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672610	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	86,923,366	87,965,564
nsv5672610	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	88,683,123	89,725,321

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172432	deletion	Multiple	Multiple	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Pathogenic	ClinVar	RCV001380555.1, VCV001068879.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172432	Remapped	Perfect	NC_000010.11:g.(?_ 86923366)_(8796556 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,923,366	87,965,564
nssv17172432	Submitted genomic		NC_000010.10:g.(?_ 88683123)_(8972532 1_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	88,683,123	89,725,321

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
nssv17172432	GRCh37: NC_000010.10:g.(?_88683123)_(89725321_?)del	deletion	germline	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Pathogenic	ClinVar	RCV001380555.1, VCV001068879.1

No genotype data were submitted for this variant

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