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dbVar

Database of genomic structural variation

nsv6315547

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:3,997,848

Description:GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) AND Telangiectasia, hereditary hemorrhagic, type 5
Publication(s):McDonald 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: 11737 SVs from 133 studies. See in: genome view

Remapped(Score: Pass):45,931,517-49,929,364

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315547	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	45,931,517	49,929,364
nsv6315547	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	46,576,515	51,680,164

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976988	copy number loss	Multiple	Multiple	Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5; Telangiectasia, hereditary hemorrhagic, type 5	Pathogenic	ClinVar	RCV002280655.1, VCV001703569.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976988	Remapped	Pass	NC_000010.11:g.(?_ 45931517)_(4992936 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	45,931,517	49,929,364
nssv17976988	Submitted genomic		NC_000010.10:g.(?_ 46576515)_(5168016 4_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	46,576,515	51,680,164

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
nssv17976988	GRCh37: NC_000010.10:g.(?_46576515)_(51680164_?)del	copy number loss	unknown	Hereditary Hemorrhagic Telangiectasia; Hereditary hemorrhagic telangiectasia; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5; Telangiectasia, hereditary hemorrhagic, type 5	Pathogenic	ClinVar	RCV002280655.1, VCV001703569.1

No genotype data were submitted for this variant

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