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dbVar

Database of genomic structural variation

nsv4682363

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:17,356

Description:NC_000017.11:g.(?_7686131)_(7703486_?)del AND Li-Fraumeni syndrome
Publication(s):Lu et al. 2014, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schneider et al. 1999

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: 157 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):7,686,131-7,703,486

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682363	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	7,686,131	7,703,486
nsv4682363	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	7,589,449	7,606,804

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213317	deletion	Multiple	Multiple	Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome	Pathogenic	ClinVar	RCV001031477.2, VCV000830878.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213317	Remapped	Perfect	NC_000017.11:g.(?_ 7686131)_(7703486_ ?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	7,686,131	7,703,486
nssv16213317	Submitted genomic		NC_000017.10:g.(?_ 7589449)_(7606804_ ?)del	GRCh37 (hg19)		NC_000017.10	Chr17	7,589,449	7,606,804

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
nssv16213317	GRCh37: NC_000017.10:g.(?_7589449)_(7606804_?)del	deletion	germline	Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome	Pathogenic	ClinVar	RCV001031477.2, VCV000830878.2

No genotype data were submitted for this variant

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