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dbVar

Database of genomic structural variation

nsv6312280

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:22,627

Description:NC_000005.9:g.(?_13894749)_(13917375_?)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: 222 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):13,894,640-13,917,266

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312280	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	13,894,640	13,917,266
nsv6312280	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	13,894,749	13,917,375

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971646	deletion	Multiple	Multiple	Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001958608.4, VCV001455455.9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971646	Remapped	Perfect	NC_000005.10:g.(?_ 13894640)_(1391726 6_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	13,894,640	13,917,266
nssv17971646	Submitted genomic		NC_000005.9:g.(?_1 3894749)_(13917375 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	13,894,749	13,917,375

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
nssv17971646	GRCh37: NC_000005.9:g.(?_13894749)_(13917375_?)del	deletion	germline	Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia	Pathogenic	ClinVar	RCV001958608.4, VCV001455455.9

No genotype data were submitted for this variant

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