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dbVar

Database of genomic structural variation

nsv3887173

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:5,763

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, Henderson et al. 1988, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Mysliwiec et al. 2014, Russell et al. 1986, 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: 98 SVs from 26 studies. See in: genome view

Submitted genomic11,107,515-11,113,277

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3887173	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000019.10	Chr19	11,107,515	11,110,651	11,111,640	11,113,277
nsv3887173	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000019.9	Chr19	11,218,191	11,221,327	11,222,316	11,223,953

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15120117	deletion	Multiple	Multiple	Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants	Pathogenic/Likely pathogenic	ClinVar	RCV000003889.10, VCV000003701.3
nssv15131527	deletion	Multiple	Multiple	See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000575461.2, VCV000003701.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15120117	Submitted genomic	NC_000019.10:g.(11 107515_11110651)_( 11111640_11113277) del	GRCh38 (hg38)	NC_000019.10	Chr19	11,107,515	11,110,651	11,111,640	11,113,277
nssv15131527	Submitted genomic	NC_000019.10:g.(11 107515_11110651)_( 11111640_11113277) del	GRCh38 (hg38)	NC_000019.10	Chr19	11,107,515	11,110,651	11,111,640	11,113,277
nssv15120117	Submitted genomic	NC_000019.9:g.(112 18191_11221327)_(1 1222316_11223953)d el	GRCh37 (hg19)	NC_000019.9	Chr19	11,218,191	11,221,327	11,222,316	11,223,953
nssv15131527	Submitted genomic	NC_000019.9:g.(112 18191_11221327)_(1 1222316_11223953)d el	GRCh37 (hg19)	NC_000019.9	Chr19	11,218,191	11,221,327	11,222,316	11,223,953

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
nssv15120117	GRCh37: NC_000019.9:g.(11218191_11221327)_(11222316_11223953)del, GRCh38: NC_000019.10:g.(11107515_11110651)_(11111640_11113277)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/Likely pathogenic	ClinVar	RCV000003889.10, VCV000003701.3
nssv15131527	GRCh37: NC_000019.9:g.(11218191_11221327)_(11222316_11223953)del, GRCh38: NC_000019.10:g.(11107515_11110651)_(11111640_11113277)del	deletion	germline	See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000575461.2, VCV000003701.3

No genotype data were submitted for this variant

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