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

dbVar

Database of genomic structural variation

nsv4682997

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:34,048

Description:
See descriptions for individual calls in download files
Publication(s):Parisi et al. 2003, Toriello et al. 2002, Valente et al. 2011

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 185 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):13,735,066-13,769,113

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682997	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	13,735,066	13,769,113
nsv4682997	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	13,753,185	13,787,232

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214796	deletion	Multiple	Multiple	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome; OROFACIODIGITAL SYNDROME I; OFD1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome I; Orofaciodigital syndrome type 1	Pathogenic	ClinVar	RCV001031300.1, VCV000830684.1
nssv16867209	duplication	Multiple	Multiple	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome; OROFACIODIGITAL SYNDROME I; OFD1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome I; Orofaciodigital syndrome type 1	Uncertain significance	ClinVar	RCV001343837.4, VCV001040233.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214796	Remapped	Perfect	NC_000023.11:g.(?_ 13735066)_(1376911 3_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	13,735,066	13,769,113
nssv16867209	Remapped	Perfect	NC_000023.11:g.(?_ 13735066)_(1376911 3_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	13,735,066	13,769,113
nssv16214796	Submitted genomic		NC_000023.10:g.(?_ 13753185)_(1378723 2_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	13,753,185	13,787,232
nssv16867209	Submitted genomic		NC_000023.10:g.(?_ 13753185)_(1378723 2_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	13,753,185	13,787,232

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
nssv16214796	GRCh37: NC_000023.10:g.(?_13753185)_(13787232_?)del	deletion	germline	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome; OROFACIODIGITAL SYNDROME I; OFD1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome I; Orofaciodigital syndrome type 1	Pathogenic	ClinVar	RCV001031300.1, VCV000830684.1
nssv16867209	GRCh37: NC_000023.10:g.(?_13753185)_(13787232_?)dup	duplication	germline	JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome; OROFACIODIGITAL SYNDROME I; OFD1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome I; Orofaciodigital syndrome type 1	Uncertain significance	ClinVar	RCV001343837.4, VCV001040233.4

No genotype data were submitted for this variant

You are here: NCBI