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dbVar

Database of genomic structural variation

nsv7093656

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:69,817

Description:NC_000010.10:g.(?_90697798)_(90767614_?)dup AND Aortic aneurysm, familial thoracic 6
Publication(s):ACMG Board of Directors et al. 2014, Boodhwani et al. 2014, Erbel et al. 2014, Green et al. 2013, Kalia et al. 2016, Milewicz et al. 2003, Miller et al. 2021, Miller et al. 2022

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: 249 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):88,938,041-89,007,857

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093656	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	88,938,041	89,007,857
nsv7093656	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	90,697,798	90,767,614

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791995	duplication	Multiple	Multiple	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6; Aortic aneurysm, familial thoracic 6; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV003107441.1, VCV002424208.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791995	Remapped	Perfect	NC_000010.11:g.(?_ 88938041)_(8900785 7_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	88,938,041	89,007,857
nssv18791995	Submitted genomic		NC_000010.10:g.(?_ 90697798)_(9076761 4_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	90,697,798	90,767,614

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
nssv18791995	GRCh37: NC_000010.10:g.(?_90697798)_(90767614_?)dup	duplication	germline	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6; Aortic aneurysm, familial thoracic 6; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV003107441.1, VCV002424208.3

No genotype data were submitted for this variant

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