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dbVar

Database of genomic structural variation

nsv4682188

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:28,482

Description:NC_000015.10:g.(?_72676034)_(72704515_?)dup AND Bardet-Biedl syndrome
Publication(s):Forsythe et al. 2003, Styne et al. 2017

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: 181 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):72,676,034-72,704,515

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682188	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,676,034	72,704,515
nsv4682188	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,968,375	72,996,856

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212063	duplication	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Uncertain significance	ClinVar	RCV001032244.3, VCV000831703.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212063	Remapped	Perfect	NC_000015.10:g.(?_ 72676034)_(7270451 5_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,676,034	72,704,515
nssv16212063	Submitted genomic		NC_000015.9:g.(?_7 2968375)_(72996856 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	72,968,375	72,996,856

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
nssv16212063	GRCh37: NC_000015.9:g.(?_72968375)_(72996856_?)dup	duplication	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Uncertain significance	ClinVar	RCV001032244.3, VCV000831703.3

No genotype data were submitted for this variant

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