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dbVar

Database of genomic structural variation

nsv6314824

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:63,497

Description:NC_000023.10:g.100564340_100627836del AND Deafness dystonia syndrome
Publication(s):Tranebjærg 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: 237 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):101,309,352-101,372,848

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6314824	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	101,309,352	101,372,848
nsv6314824	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	100,564,340	100,627,836

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976244	deletion	Multiple	Multiple	Deafness dystonia syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; MOHR-TRANEBJAERG SYNDROME; MTS; Mohr-Tranebjaerg syndrome	Pathogenic	ClinVar	RCV002226784.3, VCV001312516.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976244	Remapped	Perfect	NC_000023.11:g.101 309352_101372848de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	101,309,352	101,372,848
nssv17976244	Submitted genomic		NC_000023.10:g.100 564340_100627836de l	GRCh37 (hg19)		NC_000023.10	ChrX	100,564,340	100,627,836

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
nssv17976244	GRCh37: NC_000023.10:g.100564340_100627836del	deletion	germline	Deafness dystonia syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; MOHR-TRANEBJAERG SYNDROME; MTS; Mohr-Tranebjaerg syndrome	Pathogenic	ClinVar	RCV002226784.3, VCV001312516.3

No genotype data were submitted for this variant

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