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dbVar

Database of genomic structural variation

nsv6309801

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:114,593

Description:NC_000015.9:g.(?_65255951)_(65370540_?)del AND Nemaline myopathy 6
Publication(s):Nowak 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: 367 SVs from 54 studies. See in: genome view

Remapped(Score: Good):64,963,610-65,078,202

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309801	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	64,963,610	65,078,202
nsv6309801	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	65,255,951	65,370,540

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968945	deletion	Multiple	Multiple	Childhood-onset nemaline myopathy; NEMALINE MYOPATHY 6; NEM6; Nemaline myopathy 6	Uncertain significance	ClinVar	RCV001966829.2, VCV001471542.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968945	Remapped	Good	NC_000015.10:g.(?_ 64963610)_(6507820 2_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	64,963,610	65,078,202
nssv17968945	Submitted genomic		NC_000015.9:g.(?_6 5255951)_(65370540 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	65,255,951	65,370,540

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
nssv17968945	GRCh37: NC_000015.9:g.(?_65255951)_(65370540_?)del	deletion	germline	Childhood-onset nemaline myopathy; NEMALINE MYOPATHY 6; NEM6; Nemaline myopathy 6	Uncertain significance	ClinVar	RCV001966829.2, VCV001471542.2

No genotype data were submitted for this variant

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