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dbVar

Database of genomic structural variation

nsv5381272

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:46,787

Description:
NC_000019.9:g.(?_4077097)_(4123882_?)dup AND RASopathy

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: 314 SVs from 61 studies. See in: genome view

Remapped(Score: Good):4,077,099-4,123,885

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381272	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	4,077,099	4,123,885
nsv5381272	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	4,077,097	4,123,882

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866463	duplication	Multiple	Multiple	RASopathy	Uncertain significance	ClinVar	RCV001309708.1, VCV001011850.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866463	Remapped	Good	NC_000019.10:g.(?_ 4077099)_(4123885_ ?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	4,077,099	4,123,885
nssv16866463	Submitted genomic		NC_000019.9:g.(?_4 077097)_(4123882_? )dup	GRCh37 (hg19)		NC_000019.9	Chr19	4,077,097	4,123,882

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
nssv16866463	GRCh37: NC_000019.9:g.(?_4077097)_(4123882_?)dup	duplication	germline	RASopathy	Uncertain significance	ClinVar	RCV001309708.1, VCV001011850.1

No genotype data were submitted for this variant

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