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dbVar

Database of genomic structural variation

nsv4682672

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:357,076

Description:NC_000020.11:g.(?_408719)_(765794_?)dup AND Polyglucosan body myopathy type 1

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: 1367 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):408,719-765,794

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682672	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	408,719	765,794
nsv4682672	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	389,363	746,438

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214106	duplication	Multiple	Multiple	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis; POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1; Polyglucosan body myopathy 1 with or without immunodeficiency; Polyglucosan body myopathy type 1; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001032626.1, VCV000832108.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214106	Remapped	Perfect	NC_000020.11:g.(?_ 408719)_(765794_?) dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	408,719	765,794
nssv16214106	Submitted genomic		NC_000020.10:g.(?_ 389363)_(746438_?) dup	GRCh37 (hg19)		NC_000020.10	Chr20	389,363	746,438

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
nssv16214106	GRCh37: NC_000020.10:g.(?_389363)_(746438_?)dup	duplication	germline	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis; POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1; Polyglucosan body myopathy 1 with or without immunodeficiency; Polyglucosan body myopathy type 1; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001032626.1, VCV000832108.1

No genotype data were submitted for this variant

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