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dbVar

Database of genomic structural variation

nsv7098224

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:901,530

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: 1322 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):12,867,579-13,769,108

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098224	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	12,867,579	13,769,108
nsv7098224	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	12,885,698	13,787,227

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787306	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	RCV003122295.2, VCV002423466.4
nssv18791508	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003105403.2, VCV002423466.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787306	Remapped	Perfect	NC_000023.11:g.(?_ 12867579)_(1376910 8_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,867,579	13,769,108
nssv18791508	Remapped	Perfect	NC_000023.11:g.(?_ 12867579)_(1376910 8_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,867,579	13,769,108
nssv18787306	Submitted genomic		NC_000023.10:g.(?_ 12885698)_(1378722 7_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	12,885,698	13,787,227
nssv18791508	Submitted genomic		NC_000023.10:g.(?_ 12885698)_(1378722 7_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	12,885,698	13,787,227

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
nssv18787306	GRCh37: NC_000023.10:g.(?_12885698)_(13787227_?)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	RCV003122295.2, VCV002423466.4
nssv18791508	GRCh37: NC_000023.10:g.(?_12885698)_(13787227_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003105403.2, VCV002423466.4

No genotype data were submitted for this variant

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