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dbVar

Database of genomic structural variation

nsv5381197

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:5,524

Description:NC_000019.9:g.(?_48337701)_(48343224_?)del AND multiple conditions
Publication(s):Kumaran et al. 2018

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: 122 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):47,834,444-47,839,967

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381197	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	47,834,444	47,839,967
nsv5381197	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	48,337,701	48,343,224

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867322	deletion	Multiple	Multiple	CONE-ROD DYSTROPHY 2; CORD2; Cone rod dystrophy; Cone-rod dystrophy 2; LEBER CONGENITAL AMAUROSIS 7; LCA7; Leber congenital amaurosis; Leber congenital amaurosis 7	Pathogenic	ClinVar	RCV001350984.4, VCV001046426.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867322	Remapped	Perfect	NC_000019.10:g.(?_ 47834444)_(4783996 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	47,834,444	47,839,967
nssv16867322	Submitted genomic		NC_000019.9:g.(?_4 8337701)_(48343224 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	48,337,701	48,343,224

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
nssv16867322	GRCh37: NC_000019.9:g.(?_48337701)_(48343224_?)del	deletion	germline	CONE-ROD DYSTROPHY 2; CORD2; Cone rod dystrophy; Cone-rod dystrophy 2; LEBER CONGENITAL AMAUROSIS 7; LCA7; Leber congenital amaurosis; Leber congenital amaurosis 7	Pathogenic	ClinVar	RCV001350984.4, VCV001046426.4

No genotype data were submitted for this variant

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