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dbVar

Database of genomic structural variation

nsv7095465

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:14,478

Description:NC_000019.9:g.(?_11227515)_(11241992_?)del AND Familial hypercholesterolemia
Publication(s):Youngblom et al. 2014

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: 147 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):11,116,839-11,131,316

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095465	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	11,116,839	11,131,316
nsv7095465	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	11,227,515	11,241,992

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789313	deletion	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial	Pathogenic	ClinVar	RCV003111350.2, VCV002423208.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789313	Remapped	Perfect	NC_000019.10:g.(?_ 11116839)_(1113131 6_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,116,839	11,131,316
nssv18789313	Submitted genomic		NC_000019.9:g.(?_1 1227515)_(11241992 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	11,227,515	11,241,992

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
nssv18789313	GRCh37: NC_000019.9:g.(?_11227515)_(11241992_?)del	deletion	germline	Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial	Pathogenic	ClinVar	RCV003111350.2, VCV002423208.2

No genotype data were submitted for this variant

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