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dbVar

Database of genomic structural variation

nsv6309957

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:5,021

Description:NC_000016.9:g.(?_90089130)_(90094150_?)del AND Primary ciliary dyskinesia 33

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: 179 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):90,022,722-90,027,742

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309957	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	90,022,722	90,027,742
nsv6309957	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	90,089,130	90,094,150

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970799	deletion	Multiple	Multiple	CILIARY DYSKINESIA, PRIMARY, 33; CILD33; Ciliary dyskinesia, primary, 33; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001946607.2, VCV001455472.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970799	Remapped	Perfect	NC_000016.10:g.(?_ 90022722)_(9002774 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	90,022,722	90,027,742
nssv17970799	Submitted genomic		NC_000016.9:g.(?_9 0089130)_(90094150 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	90,089,130	90,094,150

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
nssv17970799	GRCh37: NC_000016.9:g.(?_90089130)_(90094150_?)del	deletion	germline	CILIARY DYSKINESIA, PRIMARY, 33; CILD33; Ciliary dyskinesia, primary, 33; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001946607.2, VCV001455472.2

No genotype data were submitted for this variant

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