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dbVar

Database of genomic structural variation

nsv5381497

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:6,395

Description:NC_000003.11:g.(?_42727101)_(42733495_?)dup AND Nemaline myopathy 8

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: 68 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):42,685,609-42,692,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381497	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	42,685,609	42,692,003
nsv5381497	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	42,727,101	42,733,495

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867177	duplication	Multiple	Multiple	NEMALINE MYOPATHY 8; NEM8; Nemaline myopathy 8; Severe congenital nemaline myopathy	Uncertain significance	ClinVar	RCV001341310.1, VCV001038059.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867177	Remapped	Perfect	NC_000003.12:g.(?_ 42685609)_(4269200 3_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	42,685,609	42,692,003
nssv16867177	Submitted genomic		NC_000003.11:g.(?_ 42727101)_(4273349 5_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	42,727,101	42,733,495

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
nssv16867177	GRCh37: NC_000003.11:g.(?_42727101)_(42733495_?)dup	duplication	germline	NEMALINE MYOPATHY 8; NEM8; Nemaline myopathy 8; Severe congenital nemaline myopathy	Uncertain significance	ClinVar	RCV001341310.1, VCV001038059.1

No genotype data were submitted for this variant

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