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dbVar

Database of genomic structural variation

nsv7097811

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:75,165

Description:NC_000006.11:g.(?_135679250)_(135754414_?)del AND Familial aplasia of the vermis
Publication(s):Parisi et al. 2003, Valente et al. 2011

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: 236 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):135,358,112-135,433,276

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097811	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,358,112	135,433,276
nsv7097811	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,679,250	135,754,414

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786863	deletion	Multiple	Multiple	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Pathogenic	ClinVar	RCV003119777.2, VCV002426336.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786863	Remapped	Perfect	NC_000006.12:g.(?_ 135358112)_(135433 276_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,358,112	135,433,276
nssv18786863	Submitted genomic		NC_000006.11:g.(?_ 135679250)_(135754 414_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,679,250	135,754,414

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
nssv18786863	GRCh37: NC_000006.11:g.(?_135679250)_(135754414_?)del	deletion	germline	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Pathogenic	ClinVar	RCV003119777.2, VCV002426336.4

No genotype data were submitted for this variant

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