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dbVar

Database of genomic structural variation

nsv4682144

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:1,265,129

Description:
See descriptions for individual calls in download files
Publication(s):Platzer et al. 2018

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: 3068 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):12,717,002-13,982,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682144	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	12,717,002	13,982,130
nsv4682144	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	12,869,936	14,135,064

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213761	duplication	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27; Epileptic encephalopathy, early infantile, 27; GRIN2B-Related Neurodevelopmental Disorder; Infantile spasms syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6; Mental retardation, autosomal dominant 6	Uncertain significance	ClinVar	RCV001032122.2, VCV000831573.2
nssv16213768	deletion	Multiple	Multiple	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27; Epileptic encephalopathy, early infantile, 27; GRIN2B-Related Neurodevelopmental Disorder; Infantile spasms syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6; Mental retardation, autosomal dominant 6	Pathogenic	ClinVar	RCV001032132.4, VCV000831584.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213761	Remapped	Perfect	NC_000012.12:g.(?_ 12717002)_(1398213 0_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	12,717,002	13,982,130
nssv16213768	Remapped	Perfect	NC_000012.12:g.(?_ 12717002)_(1398213 0_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	12,717,002	13,982,130
nssv16213761	Submitted genomic		NC_000012.11:g.(?_ 12869936)_(1413506 4_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	12,869,936	14,135,064
nssv16213768	Submitted genomic		NC_000012.11:g.(?_ 12869936)_(1413506 4_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	12,869,936	14,135,064

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
nssv16213761	GRCh37: NC_000012.11:g.(?_12869936)_(14135064_?)dup	duplication	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27; Epileptic encephalopathy, early infantile, 27; GRIN2B-Related Neurodevelopmental Disorder; Infantile spasms syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6; Mental retardation, autosomal dominant 6	Uncertain significance	ClinVar	RCV001032122.2, VCV000831573.2
nssv16213768	GRCh37: NC_000012.11:g.(?_12869936)_(14135064_?)del	deletion	germline	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27; Epileptic encephalopathy, early infantile, 27; GRIN2B-Related Neurodevelopmental Disorder; Infantile spasms syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6; Mental retardation, autosomal dominant 6	Pathogenic	ClinVar	RCV001032132.4, VCV000831584.4

No genotype data were submitted for this variant

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