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dbVar

Database of genomic structural variation

nsv5381193

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:287,356

Description:NC_000019.9:g.(?_10912954)_(11200309_?)dup 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: 804 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):10,802,278-11,089,633

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381193	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	10,802,278	11,089,633
nsv5381193	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	10,912,954	11,200,309

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867244	duplication	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial	Uncertain significance	ClinVar	RCV001345083.2, VCV001041299.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867244	Remapped	Perfect	NC_000019.10:g.(?_ 10802278)_(1108963 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,802,278	11,089,633
nssv16867244	Submitted genomic		NC_000019.9:g.(?_1 0912954)_(11200309 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	10,912,954	11,200,309

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
nssv16867244	GRCh37: NC_000019.9:g.(?_10912954)_(11200309_?)dup	duplication	germline	Familial Hypercholesterolemia; Familial hypercholesterolemia; Hypercholesterolemia, familial	Uncertain significance	ClinVar	RCV001345083.2, VCV001041299.2

No genotype data were submitted for this variant

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