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dbVar

Database of genomic structural variation

nsv7098424

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:2,936

Description:NC_000009.11:g.(?_130578196)_(130581131_?)del AND Hereditary hemorrhagic telangiectasia

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: 100 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):127,815,917-127,818,852

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098424	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	127,815,917	127,818,852
nsv7098424	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	130,578,196	130,581,131

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791188	deletion	Multiple	Multiple	Hereditary hemorrhagic telangiectasia; Telangiectasia, hereditary hemorrhagic	Pathogenic	ClinVar	RCV003119328.1, VCV002422376.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791188	Remapped	Perfect	NC_000009.12:g.(?_ 127815917)_(127818 852_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	127,815,917	127,818,852
nssv18791188	Submitted genomic		NC_000009.11:g.(?_ 130578196)_(130581 131_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	130,578,196	130,581,131

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
nssv18791188	GRCh37: NC_000009.11:g.(?_130578196)_(130581131_?)del	deletion	germline	Hereditary hemorrhagic telangiectasia; Telangiectasia, hereditary hemorrhagic	Pathogenic	ClinVar	RCV003119328.1, VCV002422376.1

No genotype data were submitted for this variant

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