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dbVar

Database of genomic structural variation

nsv7094135

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:303,426

Description:NC_000012.11:g.(?_13715717)_(14019142_?)dup AND multiple conditions
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: 671 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):13,562,783-13,866,208

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094135	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	13,562,783	13,866,208
nsv7094135	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	13,715,717	14,019,142

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791463	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	RCV003105358.2, VCV002423421.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791463	Remapped	Perfect	NC_000012.12:g.(?_ 13562783)_(1386620 8_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	13,562,783	13,866,208
nssv18791463	Submitted genomic		NC_000012.11:g.(?_ 13715717)_(1401914 2_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	13,715,717	14,019,142

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
nssv18791463	GRCh37: NC_000012.11:g.(?_13715717)_(14019142_?)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	RCV003105358.2, VCV002423421.4

No genotype data were submitted for this variant

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