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dbVar

Database of genomic structural variation

nsv5672693

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:61,267

Description:NC_000010.10:g.(?_88598623)_(88659889_?)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: 254 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):86,838,866-86,900,132

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672693	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	86,838,866	86,900,132
nsv5672693	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	88,598,623	88,659,889

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172010	deletion	Multiple	Multiple	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Pathogenic	ClinVar	RCV001391045.2, VCV001076985.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172010	Remapped	Perfect	NC_000010.11:g.(?_ 86838866)_(8690013 2_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,838,866	86,900,132
nssv17172010	Submitted genomic		NC_000010.10:g.(?_ 88598623)_(8865988 9_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	88,598,623	88,659,889

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
nssv17172010	GRCh37: NC_000010.10:g.(?_88598623)_(88659889_?)del	deletion	germline	JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome	Pathogenic	ClinVar	RCV001391045.2, VCV001076985.2

No genotype data were submitted for this variant

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