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dbVar

Database of genomic structural variation

nsv4682902

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:151,497

Description:NC_000023.11:g.(?_38269606)_(38421102_?)del AND Ciliary dyskinesia
Publication(s):Zariwala et al. 2007

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: 322 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):38,269,606-38,421,102

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682902	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	38,269,606	38,421,102
nsv4682902	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	38,128,859	38,280,355

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213463	deletion	Multiple	Multiple	Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001031696.2, VCV000831111.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213463	Remapped	Perfect	NC_000023.11:g.(?_ 38269606)_(3842110 2_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	38,269,606	38,421,102
nssv16213463	Submitted genomic		NC_000023.10:g.(?_ 38128859)_(3828035 5_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	38,128,859	38,280,355

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
nssv16213463	GRCh37: NC_000023.10:g.(?_38128859)_(38280355_?)del	deletion	germline	Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001031696.2, VCV000831111.1

No genotype data were submitted for this variant

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