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dbVar

Database of genomic structural variation

nsv5381559

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:83,632

Description:NC_000008.10:g.(?_68024197)_(68107828_?)dup AND Joubert syndrome 21
Publication(s):Parisi 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: 357 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):67,111,962-67,195,593

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381559	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	67,111,962	67,195,593
nsv5381559	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	68,024,197	68,107,828

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866688	duplication	Multiple	Multiple	JOUBERT SYNDROME 21; JBTS21; Joubert Syndrome; Joubert syndrome 21	Uncertain significance	ClinVar	RCV001316684.2, VCV001017525.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866688	Remapped	Perfect	NC_000008.11:g.(?_ 67111962)_(6719559 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	67,111,962	67,195,593
nssv16866688	Submitted genomic		NC_000008.10:g.(?_ 68024197)_(6810782 8_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	68,024,197	68,107,828

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
nssv16866688	GRCh37: NC_000008.10:g.(?_68024197)_(68107828_?)dup	duplication	germline	JOUBERT SYNDROME 21; JBTS21; Joubert Syndrome; Joubert syndrome 21	Uncertain significance	ClinVar	RCV001316684.2, VCV001017525.2

No genotype data were submitted for this variant

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