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dbVar

Database of genomic structural variation

nsv7094577

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:336,421

Description:
NC_000016.9:g.(?_289853)_(626274_?)dup AND 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: 2810 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):239,854-576,274

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094577	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	239,854	576,274
nsv7094577	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	289,853	626,274

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789752	duplication	Multiple	Multiple	Epilepsy; Seizure; Seizure Disorders	Uncertain significance	ClinVar	RCV003113400.2, VCV002425034.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789752	Remapped	Perfect	NC_000016.10:g.(?_ 239854)_(576274_?) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	239,854	576,274
nssv18789752	Submitted genomic		NC_000016.9:g.(?_2 89853)_(626274_?)d up	GRCh37 (hg19)		NC_000016.9	Chr16	289,853	626,274

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
nssv18789752	GRCh37: NC_000016.9:g.(?_289853)_(626274_?)dup	duplication	germline	Epilepsy; Seizure; Seizure Disorders	Uncertain significance	ClinVar	RCV003113400.2, VCV002425034.2

No genotype data were submitted for this variant

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