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dbVar

Database of genomic structural variation

nsv7096198

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:2,694

Description:NC_000002.11:g.(?_127825719)_(127828412_?)dup AND Myopathy, centronuclear, 2
Publication(s):Biancalana et al. 2012

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: 124 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):127,068,143-127,070,836

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096198	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	127,068,143	127,070,836
nsv7096198	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	127,825,719	127,828,412

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788101	duplication	Multiple	Multiple	Autosomal recessive centronuclear myopathy; Autosomal recessive centronuclear myopathy; MYOPATHY, CENTRONUCLEAR, 2; CNM2	Uncertain significance	ClinVar	RCV003123122.2, VCV002427288.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788101	Remapped	Perfect	NC_000002.12:g.(?_ 127068143)_(127070 836_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	127,068,143	127,070,836
nssv18788101	Submitted genomic		NC_000002.11:g.(?_ 127825719)_(127828 412_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	127,825,719	127,828,412

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
nssv18788101	GRCh37: NC_000002.11:g.(?_127825719)_(127828412_?)dup	duplication	germline	Autosomal recessive centronuclear myopathy; Autosomal recessive centronuclear myopathy; MYOPATHY, CENTRONUCLEAR, 2; CNM2	Uncertain significance	ClinVar	RCV003123122.2, VCV002427288.2

No genotype data were submitted for this variant

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