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dbVar

Database of genomic structural variation

nsv7096104

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:1,003

Description:NC_000002.11:g.(?_170349364)_(170350366_?)del 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: 153 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):169,492,854-169,493,856

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096104	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	169,492,854	169,493,856
nsv7096104	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	170,349,364	170,350,366

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790047	deletion	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV003113702.2, VCV002427373.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790047	Remapped	Perfect	NC_000002.12:g.(?_ 169492854)_(169493 856_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	169,492,854	169,493,856
nssv18790047	Submitted genomic		NC_000002.11:g.(?_ 170349364)_(170350 366_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	170,349,364	170,350,366

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
nssv18790047	GRCh37: NC_000002.11:g.(?_170349364)_(170350366_?)del	deletion	germline	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV003113702.2, VCV002427373.2

No genotype data were submitted for this variant

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