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dbVar

Database of genomic structural variation

nsv4452323

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:365

Description:NC_000016.9:g.(?_15931755)_(15932119_?)dup AND Aortic aneurysm, familial thoracic 4
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: 379 SVs from 48 studies. See in: genome view

Submitted genomic15,837,898-15,838,262

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv4452323	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000016.10	Chr16	15,837,898	15,838,262
nsv4452323	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000016.9	Chr16	15,931,755	15,932,119

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15771019	duplication	Multiple	Multiple	AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4; Aortic aneurysm, familial thoracic 4	Uncertain significance	ClinVar	RCV000823976.6, VCV000665654.6

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15771019	Submitted genomic	NC_000016.10:g.(?_ 15837898)_(1583826 2_?)dup	GRCh38 (hg38)	NC_000016.10	Chr16	15,837,898	15,838,262
nssv15771019	Submitted genomic	NC_000016.9:g.(?_1 5931755)_(15932119 _?)dup	GRCh37 (hg19)	NC_000016.9	Chr16	15,931,755	15,932,119

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
nssv15771019	GRCh37: NC_000016.9:g.(?_15931755)_(15932119_?)dup, GRCh38: NC_000016.10:g.(?_15837898)_(15838262_?)dup	duplication	germline	AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4; Aortic aneurysm, familial thoracic 4	Uncertain significance	ClinVar	RCV000823976.6, VCV000665654.6

No genotype data were submitted for this variant

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