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dbVar

Database of genomic structural variation

nsv7093179

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:9,325

Description:NC_000006.11:g.(135754395_135759512)_(13575963
7_135763719)del AND Joubert syndrome and related disorders

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: 102 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):135,433,257-135,442,581

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7093179	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,433,257	135,438,374	135,438,499	135,442,581
nsv7093179	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,754,395	135,759,512	135,759,637	135,763,719

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786341	deletion	Multiple	Multiple	Joubert syndrome and related disorders	Likely pathogenic	ClinVar	RCV002510450.1, VCV001878397.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18786341	Remapped	Perfect	NC_000006.12:g.(13 5433257_135438374) _(135438499_135442 581)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,433,257	135,438,374	135,438,499	135,442,581
nssv18786341	Submitted genomic		NC_000006.11:g.(13 5754395_135759512) _(135759637_135763 719)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,754,395	135,759,512	135,759,637	135,763,719

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
nssv18786341	GRCh37: NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del	deletion	germline	Joubert syndrome and related disorders	Likely pathogenic	ClinVar	RCV002510450.1, VCV001878397.1

No genotype data were submitted for this variant

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