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dbVar

Database of genomic structural variation

nsv4350379

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:182,142

Description:GRCh37/hg19 9q34.11(chr9:130335766-130517907) AND Developmental and epileptic encephalopathy, 4
Publication(s):Khaikin et al. 2016

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

Remapped(Score: Perfect):127,573,487-127,755,628

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4350379	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	127,573,487	127,755,628
nsv4350379	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	130,335,766	130,517,907

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605846	copy number loss	Multiple	Multiple	Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; STXBP1 Encephalopathy with Epilepsy	Pathogenic	ClinVar	RCV000767646.1, VCV000625638.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605846	Remapped	Perfect	NC_000009.12:g.(?_ 127573487)_(127755 628_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	127,573,487	127,755,628
nssv15605846	Submitted genomic		NC_000009.11:g.(?_ 130335766)_(130517 907_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	130,335,766	130,517,907

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
nssv15605846	GRCh37: NC_000009.11:g.(?_130335766)_(130517907_?)del	copy number loss	germline	Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; STXBP1 Encephalopathy with Epilepsy	Pathogenic	ClinVar	RCV000767646.1, VCV000625638.1

No genotype data were submitted for this variant

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