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dbVar

Database of genomic structural variation

nsv3878324

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:160

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: 80 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):11,129,512-11,129,671

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3878324	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	11,129,512	11,129,671
nsv3878324	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	11,240,188	11,240,347

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15125190	deletion	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	RCV000211686.7, VCV000226402.6
nssv18830997	deletion	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003318760.1, VCV002574178.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15125190	Remapped	Perfect	NC_000019.10:g.(?_ 11129512)_(1112967 1_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,129,512	11,129,671
nssv18830997	Remapped	Perfect	NC_000019.10:g.(?_ 11129512)_(1112967 1_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,129,512	11,129,671
nssv15125190	Submitted genomic		NC_000019.9:g.(?_1 1240188)_(11240347 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	11,240,188	11,240,347
nssv18830997	Submitted genomic		NC_000019.9:g.(?_1 1240188)_(11240347 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	11,240,188	11,240,347

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15125190	GRCh37: NC_000019.9:g.(?_11240188)_(11240347_?)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	Conflicting interpretations of pathogenicity	ClinVar	RCV000211686.7, VCV000226402.6
nssv18830997	GRCh37: NC_000019.9:g.(?_11240188)_(11240347_?)del	deletion	germline	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003318760.1, VCV002574178.1

No genotype data were submitted for this variant

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