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dbVar

Database of genomic structural variation

nsv7096652

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:2,013,150

Description:
NC_000002.11:g.(?_37334416)_(39347563_?)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: 6246 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):37,107,273-39,120,422

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096652	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	37,107,273	39,120,422
nsv7096652	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	37,334,416	39,347,563

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790572	duplication	Multiple	Multiple	RASopathy	Pathogenic	ClinVar	RCV003116408.1, VCV002425393.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790572	Remapped	Perfect	NC_000002.12:g.(?_ 37107273)_(3912042 2_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	37,107,273	39,120,422
nssv18790572	Submitted genomic		NC_000002.11:g.(?_ 37334416)_(3934756 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	37,334,416	39,347,563

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
nssv18790572	GRCh37: NC_000002.11:g.(?_37334416)_(39347563_?)dup	duplication	germline	RASopathy	Pathogenic	ClinVar	RCV003116408.1, VCV002425393.2

No genotype data were submitted for this variant

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