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dbVar

Database of genomic structural variation

nsv3885542

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:6,219

Description:
See descriptions for individual calls in download files
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, 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: 88 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):11,100,346-11,106,564

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
nsv3885542	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	11,100,346	11,102,663	11,105,601	11,106,564
nsv3885542	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	11,211,022	11,213,339	11,216,277	11,217,240

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15124023	deletion	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000237478.1, VCV000251059.1
nssv15124035	duplication	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Conflicting interpretations of pathogenicity	ClinVar	RCV000238122.3, VCV000251060.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15124023	Remapped	Perfect	NC_000019.10:g.(11 100346_11102663)_( 11105601_11106564) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,100,346	11,102,663	11,105,601	11,106,564
nssv15124035	Remapped	Perfect	NC_000019.10:g.(11 100346_11102663)_( 11105601_11106564) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,100,346	11,102,663	11,105,601	11,106,564
nssv15124023	Submitted genomic		NC_000019.9:g.(112 11022_11213339)_(1 1216277_11217240)d el	GRCh37 (hg19)		NC_000019.9	Chr19	11,211,022	11,213,339	11,216,277	11,217,240
nssv15124035	Submitted genomic		NC_000019.9:g.(112 11022_11213339)_(1 1216277_11217240)d up	GRCh37 (hg19)		NC_000019.9	Chr19	11,211,022	11,213,339	11,216,277	11,217,240

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
nssv15124023	GRCh37: NC_000019.9:g.(11211022_11213339)_(11216277_11217240)del	deletion	germline	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000237478.1, VCV000251059.1
nssv15124035	GRCh37: NC_000019.9:g.(11211022_11213339)_(11216277_11217240)dup	duplication	see ClinVar for details	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Conflicting interpretations of pathogenicity	ClinVar	RCV000238122.3, VCV000251060.2

No genotype data were submitted for this variant

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