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dbVar

Database of genomic structural variation

nsv4349605

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:2,633,185

Description:GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) AND Generalized epilepsy with febrile seizures plus, type 1
Publication(s):Burgunder et al. 2010

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: 9130 SVs from 114 studies. See in: genome view

Remapped(Score: Perfect):34,620,906-37,254,090

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4349605	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	34,620,906	37,254,090
nsv4349605	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	35,111,811	37,744,992

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15606084	copy number loss	Multiple	Multiple	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1; Generalized epilepsy with febrile seizures plus, type 1; Generalized epilepsy with febrile seizures-plus	Pathogenic	ClinVar	RCV000767768.1, VCV000625760.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15606084	Remapped	Perfect	NC_000019.10:g.(?_ 34620906)_(3725409 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	34,620,906	37,254,090
nssv15606084	Submitted genomic		NC_000019.9:g.(?_3 5111811)_(37744992 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	35,111,811	37,744,992

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
nssv15606084	GRCh37: NC_000019.9:g.(?_35111811)_(37744992_?)del	copy number loss	de novo	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1; Generalized epilepsy with febrile seizures plus, type 1; Generalized epilepsy with febrile seizures-plus	Pathogenic	ClinVar	RCV000767768.1, VCV000625760.1

No genotype data were submitted for this variant

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