Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4681867

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:152,817

Description:NC_000003.12:g.(?_93973674)_(94126490_?)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: 355 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):93,973,674-94,126,490

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681867	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	93,973,674	94,126,490
nsv4681867	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	93,692,518	93,845,334

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214515	duplication	Multiple	Multiple	JOUBERT SYNDROME 8; JBTS8; Joubert Syndrome; Joubert syndrome; Joubert syndrome 8	Uncertain significance	ClinVar	RCV001033471.2, VCV000833008.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214515	Remapped	Perfect	NC_000003.12:g.(?_ 93973674)_(9412649 0_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	93,973,674	94,126,490
nssv16214515	Submitted genomic		NC_000003.11:g.(?_ 93692518)_(9384533 4_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	93,692,518	93,845,334

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
nssv16214515	GRCh37: NC_000003.11:g.(?_93692518)_(93845334_?)dup	duplication	germline	JOUBERT SYNDROME 8; JBTS8; Joubert Syndrome; Joubert syndrome; Joubert syndrome 8	Uncertain significance	ClinVar	RCV001033471.2, VCV000833008.2

No genotype data were submitted for this variant

You are here: NCBI