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dbVar

Database of genomic structural variation

nsv5380765

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:103,288

Description:
NC_000015.9:g.(?_66679676)_(66782963_?)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: 388 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):66,387,338-66,490,625

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380765	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	66,387,338	66,490,625
nsv5380765	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	66,679,676	66,782,963

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16865962	duplication	Multiple	Multiple	RASopathy	Uncertain significance	ClinVar	RCV001295584.3, VCV000999571.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16865962	Remapped	Perfect	NC_000015.10:g.(?_ 66387338)_(6649062 5_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	66,387,338	66,490,625
nssv16865962	Submitted genomic		NC_000015.9:g.(?_6 6679676)_(66782963 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	66,679,676	66,782,963

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
nssv16865962	GRCh37: NC_000015.9:g.(?_66679676)_(66782963_?)dup	duplication	germline	RASopathy	Uncertain significance	ClinVar	RCV001295584.3, VCV000999571.3

No genotype data were submitted for this variant

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