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

dbVar

Database of genomic structural variation

nsv4683981

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:15,547

Description:NC_000017.11:g.(?_74274200)_(74289746_?)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: 269 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):74,274,200-74,289,746

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683981	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	74,274,200	74,289,746
nsv4683981	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	72,270,339	72,285,885

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212268	deletion	Multiple	Multiple	Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001032967.3, VCV000832484.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212268	Remapped	Perfect	NC_000017.11:g.(?_ 74274200)_(7428974 6_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	74,274,200	74,289,746
nssv16212268	Submitted genomic		NC_000017.10:g.(?_ 72270339)_(7228588 5_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	72,270,339	72,285,885

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
nssv16212268	GRCh37: NC_000017.10:g.(?_72270339)_(72285885_?)del	deletion	germline	Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001032967.3, VCV000832484.2

No genotype data were submitted for this variant

You are here: NCBI