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dbVar

Database of genomic structural variation

nsv3883239

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:7,485

Description:
FH Tonami 1 AND Hypercholesterolemia, familial, 1
Publication(s):ACMG Board of Directors et al. 2014, Civeira et al. 2004, Cuchel et al. 2014, Feldman et al. 2015, Goldberg et al. 2011, Green et al. 2013, Kajinami et al. 1988, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Mysliwiec et al. 2014, Rynkiewicz et al. 2013, Sullivan et al. 2012, Watts et al. 2013, 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: 113 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):11,120,523-11,128,007

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3883239	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	11,120,523	11,123,173	11,123,345	11,128,007
nsv3883239	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	11,231,199	11,233,849	11,234,021	11,238,683

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15123393	deletion	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000237642.2, VCV000252239.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15123393	Remapped	Perfect	NC_000019.10:g.(11 120523_11123173)_( 11123345_11128007) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,120,523	11,123,173	11,123,345	11,128,007
nssv15123393	Submitted genomic		NC_000019.9:g.(112 31199_11233849)_(1 1234021_11238683)d el	GRCh37 (hg19)		NC_000019.9	Chr19	11,231,199	11,233,849	11,234,021	11,238,683

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
nssv15123393	GRCh37: NC_000019.9:g.(11231199_11233849)_(11234021_11238683)del	deletion	see ClinVar for details	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000237642.2, VCV000252239.1

No genotype data were submitted for this variant

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