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dbVar

Database of genomic structural variation

nsv4682406

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:13,589

Description:NC_000001.11:g.(?_25543689)_(25557277_?)del AND Hypercholesterolemia, familial, 4
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: 80 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):25,543,689-25,557,277

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	25,543,689	25,557,277
nsv4682406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	25,870,180	25,883,768

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213234	deletion	Multiple	Multiple	Familial Hypercholesterolemia; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH; Homozygous familial hypercholesterolemia; Hypercholesterolemia, autosomal recessive	Pathogenic	ClinVar	RCV001031355.4, VCV000830746.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213234	Remapped	Perfect	NC_000001.11:g.(?_ 25543689)_(2555727 7_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	25,543,689	25,557,277
nssv16213234	Submitted genomic		NC_000001.10:g.(?_ 25870180)_(2588376 8_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	25,870,180	25,883,768

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
nssv16213234	GRCh37: NC_000001.10:g.(?_25870180)_(25883768_?)del	deletion	germline	Familial Hypercholesterolemia; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH; Homozygous familial hypercholesterolemia; Hypercholesterolemia, autosomal recessive	Pathogenic	ClinVar	RCV001031355.4, VCV000830746.6

No genotype data were submitted for this variant

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