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dbVar

Database of genomic structural variation

nsv4768372

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:2,190,226

Description:GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 AND multiple conditions
Publication(s):Khaikin et al. 2016, Sweeney et al. 2003

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: 5795 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):125,750,068-127,940,293

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4768372	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	125,750,068	127,940,293
nsv4768372	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	128,512,347	130,702,572

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16296947	copy number loss	Multiple	Multiple	Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; NAIL-PATELLA SYNDROME; NPS; Nail-Patella Syndrome; Nail-patella syndrome; Nail-patella syndrome; STXBP1 Encephalopathy with Epilepsy	Pathogenic	ClinVar	RCV001263247.1, VCV000983307.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16296947	Remapped	Perfect	NC_000009.12:g.(?_ 125750068)_(127940 293_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	125,750,068	127,940,293
nssv16296947	Submitted genomic		NC_000009.11:g.(?_ 128512347)_(130702 572_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	128,512,347	130,702,572

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	Copy number
nssv16296947	GRCh37: NC_000009.11:g.(?_128512347)_(130702572_?)del	copy number loss	de novo	Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; NAIL-PATELLA SYNDROME; NPS; Nail-Patella Syndrome; Nail-patella syndrome; Nail-patella syndrome; STXBP1 Encephalopathy with Epilepsy	Pathogenic	ClinVar	RCV001263247.1, VCV000983307.1	1

No genotype data were submitted for this variant

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