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dbVar

Database of genomic structural variation

nsv6315097

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:14,883

Description:NC_000011.9:g.(66278711_66281876)_(66291354_66
293593)del AND Bardet-Biedl syndrome
Publication(s):Forsythe et al. 2003

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: 107 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):66,511,240-66,526,122

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6315097	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	66,511,240	66,514,405	66,523,883	66,526,122
nsv6315097	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	66,278,711	66,281,876	66,291,354	66,293,593

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976607	deletion	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV002271837.1, VCV001698560.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17976607	Remapped	Perfect	NC_000011.10:g.(66 511240_66514405)_( 66523883_66526122) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	66,511,240	66,514,405	66,523,883	66,526,122
nssv17976607	Submitted genomic		NC_000011.9:g.(662 78711_66281876)_(6 6291354_66293593)d el	GRCh37 (hg19)		NC_000011.9	Chr11	66,278,711	66,281,876	66,291,354	66,293,593

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
nssv17976607	GRCh37: NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del	deletion	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV002271837.1, VCV001698560.1

No genotype data were submitted for this variant

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