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dbVar

Database of genomic structural variation

nsv7094276

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:2,122,892

Description:NC_000015.9:g.(?_26107444)_(28230334_?)del AND multiple conditions

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: 6175 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):25,862,297-27,985,188

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094276	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	25,862,297	27,985,188
nsv7094276	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	26,107,444	28,230,334

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791448	deletion	Multiple	Multiple	Childhood absence epilepsy; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5; Epilepsy, childhood absence 1; Epilepsy, childhood absence 5	Pathogenic	ClinVar	RCV003105342.2, VCV002423405.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791448	Remapped	Perfect	NC_000015.10:g.(?_ 25862297)_(2798518 8_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	25,862,297	27,985,188
nssv18791448	Submitted genomic		NC_000015.9:g.(?_2 6107444)_(28230334 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	26,107,444	28,230,334

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
nssv18791448	GRCh37: NC_000015.9:g.(?_26107444)_(28230334_?)del	deletion	germline	Childhood absence epilepsy; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5; Epilepsy, childhood absence 1; Epilepsy, childhood absence 5	Pathogenic	ClinVar	RCV003105342.2, VCV002423405.2

No genotype data were submitted for this variant

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