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dbVar

Database of genomic structural variation

nsv5381480

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:379,482

Description:NC_000008.10:g.(?_67786376)_(68165857_?)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: 1003 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):66,874,141-67,253,622

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381480	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	66,874,141	67,253,622
nsv5381480	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	67,786,376	68,165,857

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867290	duplication	Multiple	Multiple	JOUBERT SYNDROME 21; JBTS21; Joubert Syndrome; Joubert syndrome 21	Uncertain significance	ClinVar	RCV001346674.2, VCV001042682.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867290	Remapped	Perfect	NC_000008.11:g.(?_ 66874141)_(6725362 2_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	66,874,141	67,253,622
nssv16867290	Submitted genomic		NC_000008.10:g.(?_ 67786376)_(6816585 7_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	67,786,376	68,165,857

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
nssv16867290	GRCh37: NC_000008.10:g.(?_67786376)_(68165857_?)dup	duplication	germline	JOUBERT SYNDROME 21; JBTS21; Joubert Syndrome; Joubert syndrome 21	Uncertain significance	ClinVar	RCV001346674.2, VCV001042682.2

No genotype data were submitted for this variant

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