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dbVar

Database of genomic structural variation

nsv7096012

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:187,930

Description:NC_000001.10:g.(?_980719)_(1168648_?)dup AND Congenital myasthenic syndrome 8
Publication(s):Abicht 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: 1852 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):1,045,339-1,233,268

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096012	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,045,339	1,233,268
nsv7096012	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	980,719	1,168,648

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790325	duplication	Multiple	Multiple	Congenital myasthenic syndrome; MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8; Myasthenic syndrome, congenital, 8	Uncertain significance	ClinVar	RCV003113991.2, VCV002427661.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790325	Remapped	Perfect	NC_000001.11:g.(?_ 1045339)_(1233268_ ?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,045,339	1,233,268
nssv18790325	Submitted genomic		NC_000001.10:g.(?_ 980719)_(1168648_? )dup	GRCh37 (hg19)		NC_000001.10	Chr1	980,719	1,168,648

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
nssv18790325	GRCh37: NC_000001.10:g.(?_980719)_(1168648_?)dup	duplication	germline	Congenital myasthenic syndrome; MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8; Myasthenic syndrome, congenital, 8	Uncertain significance	ClinVar	RCV003113991.2, VCV002427661.2

No genotype data were submitted for this variant

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