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dbVar

Database of genomic structural variation

nsv6315517

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:673

Description:GRCh37/hg19 9q34.11(chr9:130581787-130582459) AND Telangiectasia, hereditary hemorrhagic, type 1
Publication(s):Faughnan et al. 2009, Faughnan et al. 2020, McDonald et al. 2000, Miller et al. 2021, Miller et al. 2022, Shovlin et al. 2000

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: 98 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):127,819,508-127,820,180

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315517	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	127,819,508	127,820,180
nsv6315517	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	130,581,787	130,582,459

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976987	copy number loss	Multiple	Multiple	Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia; Hereditary hemorrhagic telangiectasia type 1; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT	Pathogenic	ClinVar	RCV002280654.1, VCV001703568.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976987	Remapped	Perfect	NC_000009.12:g.(?_ 127819508)_(127820 180_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	127,819,508	127,820,180
nssv17976987	Submitted genomic		NC_000009.11:g.(?_ 130581787)_(130582 459_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	130,581,787	130,582,459

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
nssv17976987	GRCh37: NC_000009.11:g.(?_130581787)_(130582459_?)del	copy number loss	unknown	Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia; Hereditary hemorrhagic telangiectasia type 1; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT	Pathogenic	ClinVar	RCV002280654.1, VCV001703568.1

No genotype data were submitted for this variant

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