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dbVar

Database of genomic structural variation

nsv7148162

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:92,044

Description:GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1 AND Cone-rod dystrophy 2

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: 594 SVs from 69 studies. See in: genome view

Submitted genomic47,794,370-47,886,413

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148162	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	47,794,370	47,886,413
nsv7148162	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	48,297,627	48,389,670

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841945	copy number loss	Multiple	Multiple	CONE-ROD DYSTROPHY 2; CORD2; Cone rod dystrophy; Cone-rod dystrophy 2	Uncertain significance	ClinVar	RCV003327687.1, VCV002579248.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841945	Submitted genomic		NC_000019.10:g.477 94370_47886413del	GRCh38 (hg38)		NC_000019.10	Chr19	47,794,370	47,886,413
nssv18841945	Remapped	Perfect	NC_000019.9:g.4829 7627_48389670del	GRCh37.p13	First Pass	NC_000019.9	Chr19	48,297,627	48,389,670

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	Copy number
nssv18841945	GRCh38: NC_000019.10:g.47794370_47886413del	copy number loss	unknown	CONE-ROD DYSTROPHY 2; CORD2; Cone rod dystrophy; Cone-rod dystrophy 2	Uncertain significance	ClinVar	RCV003327687.1, VCV002579248.1	1

No genotype data were submitted for this variant

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