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dbVar

Database of genomic structural variation

nsv7096433

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:2,036

Description:NC_000003.11:g.(?_11067270)_(11069305_?)del AND Myoclonic-atonic epilepsy

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: 67 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):11,025,584-11,027,619

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096433	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	11,025,584	11,027,619
nsv7096433	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	11,067,270	11,069,305

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789551	deletion	Multiple	Multiple	MYOCLONIC-ATONIC EPILEPSY; MAE; Myoclonic-astastic epilepsy; Myoclonic-atonic epilepsy	Pathogenic	ClinVar	RCV003113192.2, VCV002424611.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789551	Remapped	Perfect	NC_000003.12:g.(?_ 11025584)_(1102761 9_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	11,025,584	11,027,619
nssv18789551	Submitted genomic		NC_000003.11:g.(?_ 11067270)_(1106930 5_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	11,067,270	11,069,305

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
nssv18789551	GRCh37: NC_000003.11:g.(?_11067270)_(11069305_?)del	deletion	germline	MYOCLONIC-ATONIC EPILEPSY; MAE; Myoclonic-astastic epilepsy; Myoclonic-atonic epilepsy	Pathogenic	ClinVar	RCV003113192.2, VCV002424611.2

No genotype data were submitted for this variant

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