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dbVar

Database of genomic structural variation

nsv7095443

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:128,769

Description:NC_000018.9:g.(?_32335941)_(32464709_?)dup AND Left ventricular noncompaction 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: 353 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):34,755,977-34,884,745

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095443	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	34,755,977	34,884,745
nsv7095443	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	32,335,941	32,464,709

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791950	duplication	Multiple	Multiple	LEFT VENTRICULAR NONCOMPACTION 1; LVNC1; Left ventricular noncompaction; Left ventricular noncompaction 1	Uncertain significance	ClinVar	RCV003107392.2, VCV002424159.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791950	Remapped	Perfect	NC_000018.10:g.(?_ 34755977)_(3488474 5_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	34,755,977	34,884,745
nssv18791950	Submitted genomic		NC_000018.9:g.(?_3 2335941)_(32464709 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	32,335,941	32,464,709

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
nssv18791950	GRCh37: NC_000018.9:g.(?_32335941)_(32464709_?)dup	duplication	germline	LEFT VENTRICULAR NONCOMPACTION 1; LVNC1; Left ventricular noncompaction; Left ventricular noncompaction 1	Uncertain significance	ClinVar	RCV003107392.2, VCV002424159.2

No genotype data were submitted for this variant

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