Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4681804

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:14,262

Description:NC_000015.10:g.72708224_72722485del 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: 144 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):72,708,224-72,722,485

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4681804	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,708,224	72,722,485
nsv4681804	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	73,000,565	73,014,826

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214771	deletion	Multiple	Multiple	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV001002879.1, VCV000812225.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16214771	Remapped	Perfect	NC_000015.10:g.727 08224_72722485del	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,708,224	72,722,485
nssv16214771	Submitted genomic		NC_000015.9:g.7300 0565_73014826del	GRCh37 (hg19)		NC_000015.9	Chr15	73,000,565	73,014,826

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
nssv16214771	GRCh37: NC_000015.9:g.73000565_73014826del	deletion	inherited	Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome	Pathogenic	ClinVar	RCV001002879.1, VCV000812225.1

No genotype data were submitted for this variant

You are here: NCBI