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dbVar

Database of genomic structural variation

nsv5564168

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:17,005

Description:
See descriptions for individual calls in download files

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: 264 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):63,472,158-63,489,162

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564168	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	63,472,158	63,489,162
nsv5564168	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	62,103,511	62,120,515

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059205	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33; Epileptic encephalopathy, early infantile, 33; Undetermined early onset epileptic encephalopathy	Uncertain significance	ClinVar	RCV001374028.7, VCV001064103.9
nssv17172815	deletion	Multiple	Multiple	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001384416.2, VCV001064103.9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059205	Remapped	Perfect	NC_000020.11:g.(?_ 63472158)_(6348916 2_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	63,472,158	63,489,162
nssv17172815	Remapped	Perfect	NC_000020.11:g.(?_ 63472158)_(6348916 2_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	63,472,158	63,489,162
nssv17059205	Submitted genomic		NC_000020.10:g.(?_ 62103511)_(6212051 5_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	62,103,511	62,120,515
nssv17172815	Submitted genomic		NC_000020.10:g.(?_ 62103511)_(6212051 5_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	62,103,511	62,120,515

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059205	GRCh37: NC_000020.10:g.(?_62103511)_(62120515_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33; Epileptic encephalopathy, early infantile, 33; Undetermined early onset epileptic encephalopathy	Uncertain significance	ClinVar	RCV001374028.7, VCV001064103.9
nssv17172815	GRCh37: NC_000020.10:g.(?_62103511)_(62120515_?)del	deletion	germline	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001384416.2, VCV001064103.9

No genotype data were submitted for this variant

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