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dbVar

Database of genomic structural variation

nsv4683217

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:96

Description:
See descriptions for individual calls in download files
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: 85 SVs from 14 studies. See in: genome view

Remapped(Score: Perfect):135,358,112-135,358,207

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683217	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,358,112	135,358,207
nsv4683217	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,679,250	135,679,345

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213368	deletion	Multiple	Multiple	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Pathogenic	ClinVar	RCV001031545.6, VCV000830948.8
nssv17973621	duplication	Multiple	Multiple	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Likely pathogenic	ClinVar	RCV002027853.3, VCV001521336.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213368	Remapped	Perfect	NC_000006.12:g.(?_ 135358112)_(135358 207_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,358,112	135,358,207
nssv17973621	Remapped	Perfect	NC_000006.12:g.(?_ 135358112)_(135358 207_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,358,112	135,358,207
nssv16213368	Submitted genomic		NC_000006.11:g.(?_ 135679250)_(135679 345_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,679,250	135,679,345
nssv17973621	Submitted genomic		NC_000006.11:g.(?_ 135679250)_(135679 345_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	135,679,250	135,679,345

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
nssv16213368	GRCh37: NC_000006.11:g.(?_135679250)_(135679345_?)del	deletion	germline	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Pathogenic	ClinVar	RCV001031545.6, VCV000830948.8
nssv17973621	GRCh37: NC_000006.11:g.(?_135679250)_(135679345_?)dup	duplication	germline	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome	Likely pathogenic	ClinVar	RCV002027853.3, VCV001521336.5

No genotype data were submitted for this variant

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