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dbVar

Database of genomic structural variation

nsv6112748

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:16,810

Description:GRCh37/hg19 6q23.3(chr6:135715893-135732702) AND Joubert syndrome 3
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: 120 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):135,394,755-135,411,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6112748	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,394,755	135,411,564
nsv6112748	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,715,893	135,732,702

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17649878	copy number loss	Multiple	Multiple	JOUBERT SYNDROME 3; JBTS3; Joubert Syndrome; Joubert syndrome 3; Joubert syndrome with ocular defect	Likely pathogenic	ClinVar	RCV001536043.2, VCV001179159.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17649878	Remapped	Perfect	NC_000006.12:g.(?_ 135394755)_(135411 564_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,394,755	135,411,564
nssv17649878	Submitted genomic		NC_000006.11:g.(?_ 135715893)_(135732 702_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,715,893	135,732,702

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
nssv17649878	GRCh37: NC_000006.11:g.(?_135715893)_(135732702_?)del	copy number loss	unknown	JOUBERT SYNDROME 3; JBTS3; Joubert Syndrome; Joubert syndrome 3; Joubert syndrome with ocular defect	Likely pathogenic	ClinVar	RCV001536043.2, VCV001179159.2

No genotype data were submitted for this variant

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