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dbVar

Database of genomic structural variation

nsv491562

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:
Submitted on:GRCh37 (hg19)

Variant Calls:0
Validation:Not tested
Clinical Assertions: No
Region Size:1,397,721

Description:7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN)
Publication(s):Mervis et al. 2015, Morris et al. 1999, Riggs et al. 2011

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: 4057 SVs from 94 studies. See in: genome view

Remapped(Score: Good):73,330,452-74,728,172

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491562	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	73,330,452	74,728,172
nsv491562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	72,744,455	74,142,510

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184582	copy number loss	Curated	Curated	WILLIAMS-BEUREN SYNDROME; WBS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184583	copy number gain	Curated	Curated	WILLIAMS-BEUREN REGION DUPLICATION SYNDROME	Pathogenic	ClinGen Dosage Sensitivity Map	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1184582	Remapped	Good	NC_000007.14:g.(?_ 73330452)_(7472817 2_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	73,330,452	74,728,172
nssv1184583	Remapped	Good	NC_000007.14:g.(?_ 73330452)_(7472817 2_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	73,330,452	74,728,172
nssv1184582	Submitted genomic		NC_000007.13:g.(?_ 72744455)_(7414251 0_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	72,744,455	74,142,510
nssv1184583	Submitted genomic		NC_000007.13:g.(?_ 72744455)_(7414251 0_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	72,744,455	74,142,510

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184582	GRCh37: NC_000007.13:g.(?_72744455)_(74142510_?)del	copy number loss	WILLIAMS-BEUREN SYNDROME; WBS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184583	GRCh37: NC_000007.13:g.(?_72744455)_(74142510_?)dup	copy number gain	WILLIAMS-BEUREN REGION DUPLICATION SYNDROME	Pathogenic	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

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