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dbVar

Database of genomic structural variation

nsv7094318

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:189

Description:NC_000013.10:g.(?_52516512)_(52516700_?)del AND Wilson disease
Publication(s):Albanese et al. 2011, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Roberts et al. 2008, Weiss 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: 100 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):51,942,376-51,942,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094318	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	51,942,376	51,942,564
nsv7094318	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	52,516,512	52,516,700

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791083	deletion	Multiple	Multiple	WILSON DISEASE; Wilson Disease; Wilson disease; Wilson disease	Pathogenic	ClinVar	RCV003119194.2, VCV002422248.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791083	Remapped	Perfect	NC_000013.11:g.(?_ 51942376)_(5194256 4_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	51,942,376	51,942,564
nssv18791083	Submitted genomic		NC_000013.10:g.(?_ 52516512)_(5251670 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	52,516,512	52,516,700

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
nssv18791083	GRCh37: NC_000013.10:g.(?_52516512)_(52516700_?)del	deletion	germline	WILSON DISEASE; Wilson Disease; Wilson disease; Wilson disease	Pathogenic	ClinVar	RCV003119194.2, VCV002422248.2

No genotype data were submitted for this variant

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