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dbVar

Database of genomic structural variation

nsv6311806

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:129,684

Description:NC_000003.11:g.(?_93593089)_(93722772_?)dup AND Joubert syndrome 8
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: 302 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):93,874,245-94,003,928

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311806	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	93,874,245	94,003,928
nsv6311806	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	93,593,089	93,722,772

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973024	duplication	Multiple	Multiple	JOUBERT SYNDROME 8; JBTS8; Joubert Syndrome; Joubert syndrome; Joubert syndrome 8	Uncertain significance	ClinVar	RCV001996991.3, VCV001447951.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973024	Remapped	Perfect	NC_000003.12:g.(?_ 93874245)_(9400392 8_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	93,874,245	94,003,928
nssv17973024	Submitted genomic		NC_000003.11:g.(?_ 93593089)_(9372277 2_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	93,593,089	93,722,772

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
nssv17973024	GRCh37: NC_000003.11:g.(?_93593089)_(93722772_?)dup	duplication	germline	JOUBERT SYNDROME 8; JBTS8; Joubert Syndrome; Joubert syndrome; Joubert syndrome 8	Uncertain significance	ClinVar	RCV001996991.3, VCV001447951.3

No genotype data were submitted for this variant

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