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dbVar

Database of genomic structural variation

nsv3889633

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:134,302

Description:NC_000016.10:g.(?_15703971)_(15838272_?)del 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: 756 SVs from 76 studies. See in: genome view

Submitted genomic15,703,971-15,838,272

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3889633	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000016.10	Chr16	15,703,971	15,838,272
nsv3889633	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000016.9	Chr16	15,797,828	15,932,129

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129199	deletion	Multiple	Multiple	AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4; Aortic aneurysm, familial thoracic 4	Pathogenic	ClinVar	RCV000531255.3, VCV000465702.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15129199	Submitted genomic	NC_000016.10:g.(?_ 15703971)_(1583827 2_?)del	GRCh38 (hg38)	NC_000016.10	Chr16	15,703,971	15,838,272
nssv15129199	Submitted genomic	NC_000016.9:g.(?_1 5797828)_(15932129 _?)del	GRCh37 (hg19)	NC_000016.9	Chr16	15,797,828	15,932,129

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
nssv15129199	GRCh37: NC_000016.9:g.(?_15797828)_(15932129_?)del, GRCh38: NC_000016.10:g.(?_15703971)_(15838272_?)del	deletion	germline	AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4; Aortic aneurysm, familial thoracic 4	Pathogenic	ClinVar	RCV000531255.3, VCV000465702.2

No genotype data were submitted for this variant

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