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dbVar

Database of genomic structural variation

nsv7093957

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:172

Description:NC_000012.11:g.(?_112919858)_(112920029_?)del 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: 74 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):112,482,054-112,482,225

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093957	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	112,482,054	112,482,225
nsv7093957	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	112,919,858	112,920,029

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789488	deletion	Multiple	Multiple	RASopathy	Uncertain significance	ClinVar	RCV003113125.2, VCV002424544.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789488	Remapped	Perfect	NC_000012.12:g.(?_ 112482054)_(112482 225_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	112,482,054	112,482,225
nssv18789488	Submitted genomic		NC_000012.11:g.(?_ 112919858)_(112920 029_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	112,919,858	112,920,029

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
nssv18789488	GRCh37: NC_000012.11:g.(?_112919858)_(112920029_?)del	deletion	germline	RASopathy	Uncertain significance	ClinVar	RCV003113125.2, VCV002424544.2

No genotype data were submitted for this variant

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