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dbVar

Database of genomic structural variation

nsv5673714

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

Description:NC_000003.11:g.10094065-?_10191654+?del AND multiple conditions
Publication(s):ACMG Board of Directors et al. 2014, Chen et al. 2010, Green et al. 2013, Hampel et al. 2014, Hussein et al. 2012, Kalia et al. 2016, Lenders et al. 2014, Miller et al. 2021, Miller et al. 2022, No authors et al. 2021, No authors et al. 2021, Reaume et al. 2013, Trepanier et al. 2004, van Leeuwaarde et al. 2000

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: 106 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):10,052,381-10,052,381

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5673714	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	10,052,381	10,052,381
nsv5673714	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	10,094,065	10,094,065

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172411	deletion	Multiple	Multiple	Chuvash erythrocytosis; ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2; Erythrocytosis, familial, 2; VON HIPPEL-LINDAU SYNDROME; VHLS; Von Hippel-Lindau Syndrome; Von Hippel-Lindau disease; Von Hippel-Lindau syndrome	Pathogenic	ClinVar	RCV001380375.1, VCV001068736.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17172411	Remapped	Perfect	NC_000003.12:g.100 52381del	GRCh38.p12	First Pass	NC_000003.12	Chr3	10,052,381	10,052,381
nssv17172411	Submitted genomic		NC_000003.11:g.100 94065del	GRCh37 (hg19)		NC_000003.11	Chr3	10,094,065	10,094,065

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
nssv17172411	GRCh37: NC_000003.11:g.10094065del	deletion	germline	Chuvash erythrocytosis; ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2; Erythrocytosis, familial, 2; VON HIPPEL-LINDAU SYNDROME; VHLS; Von Hippel-Lindau Syndrome; Von Hippel-Lindau disease; Von Hippel-Lindau syndrome	Pathogenic	ClinVar	RCV001380375.1, VCV001068736.1

No genotype data were submitted for this variant

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